SNP Links for Protein (Select 530392461) - SNP

Links from Protein

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Select item 14880258911.

rs1488025891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:15816855 (GRCh38)
10:15858854 (GRCh37)
Canonical SPDI:: NC_000010.11:15816854:G:C
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15816855G>C, NC_000010.10:g.15858854G>C, NM_024948.4:c.862C>G, NM_024948.3:c.862C>G, NM_024948.2:c.862C>G, XM_011519691.3:c.862C>G, XM_011519691.2:c.862C>G, XM_011519691.1:c.862C>G, XM_011519690.3:c.862C>G, XM_011519690.2:c.862C>G, XM_011519690.1:c.862C>G, XM_005252600.3:c.343C>G, XM_005252600.2:c.343C>G, XM_005252600.1:c.343C>G, XM_011519694.2:c.343C>G, XM_011519694.1:c.343C>G, NM_001318330.2:c.343C>G, NM_001318330.1:c.343C>G, XM_047425773.1:c.421C>G, XM_047425772.1:c.862C>G, XM_047425775.1:c.*8C>G, NP_079224.1:p.Leu288Val, XP_011517993.1:p.Leu288Val, XP_011517992.1:p.Leu288Val, XP_005252657.1:p.Leu115Val, XP_011517996.1:p.Leu115Val, NP_001305259.1:p.Leu115Val, XP_047281729.1:p.Leu141Val, XP_047281728.1:p.Leu288Val

Select item 14801829932.

rs1480182993 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:15786638 (GRCh38)
10:15828637 (GRCh37)
Canonical SPDI:: NC_000010.11:15786637:T:A
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.15786638T>A, NC_000010.10:g.15828637T>A, NM_024948.4:c.1039A>T, NM_024948.3:c.1039A>T, NM_024948.2:c.1039A>T, XM_011519691.3:c.1039A>T, XM_011519691.2:c.1039A>T, XM_011519691.1:c.1039A>T, XM_011519690.3:c.1039A>T, XM_011519690.2:c.1039A>T, XM_011519690.1:c.1039A>T, XM_005252600.3:c.520A>T, XM_005252600.2:c.520A>T, XM_005252600.1:c.520A>T, XM_006717508.3:c.958A>T, XM_006717508.2:c.958A>T, XM_006717508.1:c.958A>T, XM_017016671.2:c.958A>T, XM_017016671.1:c.958A>T, XM_011519694.2:c.520A>T, XM_011519694.1:c.520A>T, NM_001318330.2:c.520A>T, NM_001318330.1:c.520A>T, XM_047425773.1:c.598A>T, XM_047425774.1:c.517A>T, NP_079224.1:p.Met347Leu, XP_011517993.1:p.Met347Leu, XP_011517992.1:p.Met347Leu, XP_005252657.1:p.Met174Leu, XP_006717571.1:p.Met320Leu, XP_016872160.1:p.Met320Leu, XP_011517996.1:p.Met174Leu, NP_001305259.1:p.Met174Leu, XP_047281729.1:p.Met200Leu, XP_047281730.1:p.Met173Leu

Select item 14790198053.

rs1479019805 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAC>- [Show Flanks]
Chromosome:: 10:15779133 (GRCh38)
10:15821132 (GRCh37)
Canonical SPDI:: NC_000010.11:15779129:TACGTAC:TAC
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.15779133_15779136del, NC_000010.10:g.15821132_15821135del, NM_024948.4:c.1197_1200del, NM_024948.3:c.1197_1200del, NM_024948.2:c.1197_1200del, XM_005252600.3:c.678_681del, XM_005252600.2:c.678_681del, XM_005252600.1:c.678_681del, XM_006717508.3:c.1116_1119del, XM_006717508.2:c.1116_1119del, XM_006717508.1:c.1116_1119del, XM_011519694.2:c.678_681del, XM_011519694.1:c.678_681del, NM_001318330.2:c.678_681del, NM_001318330.1:c.678_681del, XM_047425773.1:c.756_759del, XM_047425774.1:c.675_678del, NP_079224.1:p.Met398_Tyr399insTer, XP_005252657.1:p.Met225_Tyr226insTer, XP_006717571.1:p.Met371_Tyr372insTer, XP_011517996.1:p.Met225_Tyr226insTer, NP_001305259.1:p.Met225_Tyr226insTer, XP_047281729.1:p.Met251_Tyr252insTer, XP_047281730.1:p.Met224_Tyr225insTer

Select item 14752713304.

rs1475271330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:15779039 (GRCh38)
10:15821038 (GRCh37)
Canonical SPDI:: NC_000010.11:15779038:A:G
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15779039A>G, NC_000010.10:g.15821038A>G, NM_024948.4:c.1291T>C, NM_024948.3:c.1291T>C, NM_024948.2:c.1291T>C, XM_005252600.3:c.772T>C, XM_005252600.2:c.772T>C, XM_005252600.1:c.772T>C, XM_006717508.3:c.1210T>C, XM_006717508.2:c.1210T>C, XM_006717508.1:c.1210T>C, XM_011519694.2:c.772T>C, XM_011519694.1:c.772T>C, NM_001318330.2:c.772T>C, NM_001318330.1:c.772T>C, XM_047425773.1:c.850T>C, XM_047425774.1:c.769T>C, NP_079224.1:p.Tyr431His, XP_005252657.1:p.Tyr258His, XP_006717571.1:p.Tyr404His, XP_011517996.1:p.Tyr258His, NP_001305259.1:p.Tyr258His, XP_047281729.1:p.Tyr284His, XP_047281730.1:p.Tyr257His

Select item 14729755235.

rs1472975523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:15816865 (GRCh38)
10:15858864 (GRCh37)
Canonical SPDI:: NC_000010.11:15816864:A:C
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: coding_sequence_variant,terminator_codon_variant,stop_lost,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15816865A>C, NC_000010.10:g.15858864A>C, NM_024948.4:c.852T>G, NM_024948.3:c.852T>G, NM_024948.2:c.852T>G, XM_011519691.3:c.852T>G, XM_011519691.2:c.852T>G, XM_011519691.1:c.852T>G, XM_011519690.3:c.852T>G, XM_011519690.2:c.852T>G, XM_011519690.1:c.852T>G, XM_005252600.3:c.333T>G, XM_005252600.2:c.333T>G, XM_005252600.1:c.333T>G, XM_011519694.2:c.333T>G, XM_011519694.1:c.333T>G, NM_001318330.2:c.333T>G, NM_001318330.1:c.333T>G, XM_047425773.1:c.411T>G, XM_047425772.1:c.852T>G, XM_047425775.1:c.781T>G, NP_079224.1:p.Ser284Arg, XP_011517993.1:p.Ser284Arg, XP_011517992.1:p.Ser284Arg, XP_005252657.1:p.Ser111Arg, XP_011517996.1:p.Ser111Arg, NP_001305259.1:p.Ser111Arg, XP_047281729.1:p.Ser137Arg, XP_047281728.1:p.Ser284Arg, XP_047281731.1:p.Ter261Gly

Select item 14692223896.

rs1469222389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:15789252 (GRCh38)
10:15831251 (GRCh37)
Canonical SPDI:: NC_000010.11:15789251:A:G
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15789252A>G, NC_000010.10:g.15831251A>G, NM_024948.4:c.1023T>C, NM_024948.3:c.1023T>C, NM_024948.2:c.1023T>C, XM_011519691.3:c.1023T>C, XM_011519691.2:c.1023T>C, XM_011519691.1:c.1023T>C, XM_011519690.3:c.1023T>C, XM_011519690.2:c.1023T>C, XM_011519690.1:c.1023T>C, XM_005252600.3:c.504T>C, XM_005252600.2:c.504T>C, XM_005252600.1:c.504T>C, XM_006717508.3:c.942T>C, XM_006717508.2:c.942T>C, XM_006717508.1:c.942T>C, XM_017016671.2:c.942T>C, XM_017016671.1:c.942T>C, XM_011519694.2:c.504T>C, XM_011519694.1:c.504T>C, NM_001318330.2:c.504T>C, NM_001318330.1:c.504T>C, XM_047425773.1:c.582T>C, XM_047425774.1:c.501T>C, XM_047425772.1:c.1023T>C

Select item 14631604677.

rs1463160467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:15782158 (GRCh38)
10:15824157 (GRCh37)
Canonical SPDI:: NC_000010.11:15782157:T:C
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15782158T>C, NC_000010.10:g.15824157T>C, NM_024948.4:c.1185A>G, NM_024948.3:c.1185A>G, NM_024948.2:c.1185A>G, XM_011519690.3:c.1185A>G, XM_011519690.2:c.1185A>G, XM_011519690.1:c.1185A>G, XM_005252600.3:c.666A>G, XM_005252600.2:c.666A>G, XM_005252600.1:c.666A>G, XM_006717508.3:c.1104A>G, XM_006717508.2:c.1104A>G, XM_006717508.1:c.1104A>G, XM_017016671.2:c.1104A>G, XM_017016671.1:c.1104A>G, XM_011519694.2:c.666A>G, XM_011519694.1:c.666A>G, NM_001318330.2:c.666A>G, NM_001318330.1:c.666A>G, XM_047425773.1:c.744A>G, XM_047425774.1:c.663A>G

Select item 14631493298.

rs1463149329 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:15816874 (GRCh38)
10:15858873 (GRCh37)
Canonical SPDI:: NC_000010.11:15816873:A:G
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
HGVS:: NC_000010.11:g.15816874A>G, NC_000010.10:g.15858873A>G, NM_024948.4:c.843T>C, NM_024948.3:c.843T>C, NM_024948.2:c.843T>C, XM_011519691.3:c.843T>C, XM_011519691.2:c.843T>C, XM_011519691.1:c.843T>C, XM_011519690.3:c.843T>C, XM_011519690.2:c.843T>C, XM_011519690.1:c.843T>C, XM_005252600.3:c.324T>C, XM_005252600.2:c.324T>C, XM_005252600.1:c.324T>C, XM_011519694.2:c.324T>C, XM_011519694.1:c.324T>C, NM_001318330.2:c.324T>C, NM_001318330.1:c.324T>C, XM_047425773.1:c.402T>C, XM_047425772.1:c.843T>C, XM_047425775.1:c.772T>C, XP_047281731.1:p.Cys258Arg

Select item 14584982279.

rs1458498227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:15779049 (GRCh38)
10:15821048 (GRCh37)
Canonical SPDI:: NC_000010.11:15779048:G:A
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000010.11:g.15779049G>A, NC_000010.10:g.15821048G>A, NM_024948.4:c.1281C>T, NM_024948.3:c.1281C>T, NM_024948.2:c.1281C>T, XM_005252600.3:c.762C>T, XM_005252600.2:c.762C>T, XM_005252600.1:c.762C>T, XM_006717508.3:c.1200C>T, XM_006717508.2:c.1200C>T, XM_006717508.1:c.1200C>T, XM_011519694.2:c.762C>T, XM_011519694.1:c.762C>T, NM_001318330.2:c.762C>T, NM_001318330.1:c.762C>T, XM_047425773.1:c.840C>T, XM_047425774.1:c.759C>T

Select item 145668636410.

rs1456686364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:15816891 (GRCh38)
10:15858890 (GRCh37)
Canonical SPDI:: NC_000010.11:15816890:T:G
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15816891T>G, NC_000010.10:g.15858890T>G, NM_024948.4:c.826A>C, NM_024948.3:c.826A>C, NM_024948.2:c.826A>C, XM_011519691.3:c.826A>C, XM_011519691.2:c.826A>C, XM_011519691.1:c.826A>C, XM_011519690.3:c.826A>C, XM_011519690.2:c.826A>C, XM_011519690.1:c.826A>C, XM_005252600.3:c.307A>C, XM_005252600.2:c.307A>C, XM_005252600.1:c.307A>C, XM_011519694.2:c.307A>C, XM_011519694.1:c.307A>C, NM_001318330.2:c.307A>C, NM_001318330.1:c.307A>C, XM_047425773.1:c.385A>C, XM_047425772.1:c.826A>C, XM_047425775.1:c.755A>C, NP_079224.1:p.Lys276Gln, XP_011517993.1:p.Lys276Gln, XP_011517992.1:p.Lys276Gln, XP_005252657.1:p.Lys103Gln, XP_011517996.1:p.Lys103Gln, NP_001305259.1:p.Lys103Gln, XP_047281729.1:p.Lys129Gln, XP_047281728.1:p.Lys276Gln, XP_047281731.1:p.Lys252Thr

Select item 145644084411.

rs1456440844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:15833668 (GRCh38)
10:15875667 (GRCh37)
Canonical SPDI:: NC_000010.11:15833667:G:C
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.15833668G>C, NC_000010.10:g.15875667G>C, NM_024948.4:c.692C>G, NM_024948.3:c.692C>G, NM_024948.2:c.692C>G, XM_011519691.3:c.692C>G, XM_011519691.2:c.692C>G, XM_011519691.1:c.692C>G, XM_011519690.3:c.692C>G, XM_011519690.2:c.692C>G, XM_011519690.1:c.692C>G, XM_005252600.3:c.173C>G, XM_005252600.2:c.173C>G, XM_005252600.1:c.173C>G, XM_006717508.3:c.692C>G, XM_006717508.2:c.692C>G, XM_006717508.1:c.692C>G, XM_017016671.2:c.692C>G, XM_017016671.1:c.692C>G, XM_011519694.2:c.173C>G, XM_011519694.1:c.173C>G, NM_001318330.2:c.173C>G, NM_001318330.1:c.173C>G, XM_047425773.1:c.251C>G, XM_047425774.1:c.251C>G, XM_047425772.1:c.692C>G, XM_047425775.1:c.692C>G, XM_047425776.1:c.692C>G, NP_079224.1:p.Ser231Cys, XP_011517993.1:p.Ser231Cys, XP_011517992.1:p.Ser231Cys, XP_005252657.1:p.Ser58Cys, XP_006717571.1:p.Ser231Cys, XP_016872160.1:p.Ser231Cys, XP_011517996.1:p.Ser58Cys, NP_001305259.1:p.Ser58Cys, XP_047281729.1:p.Ser84Cys, XP_047281730.1:p.Ser84Cys, XP_047281728.1:p.Ser231Cys, XP_047281731.1:p.Ser231Cys, XP_047281732.1:p.Ser231Cys

Select item 145585865012.

rs1455858650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:15821711 (GRCh38)
10:15863710 (GRCh37)
Canonical SPDI:: NC_000010.11:15821710:T:C
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.15821711T>C, NC_000010.10:g.15863710T>C, NM_024948.4:c.746A>G, NM_024948.3:c.746A>G, NM_024948.2:c.746A>G, XM_011519691.3:c.746A>G, XM_011519691.2:c.746A>G, XM_011519691.1:c.746A>G, XM_011519690.3:c.746A>G, XM_011519690.2:c.746A>G, XM_011519690.1:c.746A>G, XM_005252600.3:c.227A>G, XM_005252600.2:c.227A>G, XM_005252600.1:c.227A>G, XM_006717508.3:c.746A>G, XM_006717508.2:c.746A>G, XM_006717508.1:c.746A>G, XM_017016671.2:c.746A>G, XM_017016671.1:c.746A>G, XM_011519694.2:c.227A>G, XM_011519694.1:c.227A>G, NM_001318330.2:c.227A>G, NM_001318330.1:c.227A>G, XM_047425773.1:c.305A>G, XM_047425774.1:c.305A>G, XM_047425772.1:c.746A>G, NP_079224.1:p.His249Arg, XP_011517993.1:p.His249Arg, XP_011517992.1:p.His249Arg, XP_005252657.1:p.His76Arg, XP_006717571.1:p.His249Arg, XP_016872160.1:p.His249Arg, XP_011517996.1:p.His76Arg, NP_001305259.1:p.His76Arg, XP_047281729.1:p.His102Arg, XP_047281730.1:p.His102Arg, XP_047281728.1:p.His249Arg

Select item 145253598513.

rs1452535985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:15833645 (GRCh38)
10:15875644 (GRCh37)
Canonical SPDI:: NC_000010.11:15833644:C:G
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.15833645C>G, NC_000010.10:g.15875644C>G, NM_024948.4:c.715G>C, NM_024948.3:c.715G>C, NM_024948.2:c.715G>C, XM_011519691.3:c.715G>C, XM_011519691.2:c.715G>C, XM_011519691.1:c.715G>C, XM_011519690.3:c.715G>C, XM_011519690.2:c.715G>C, XM_011519690.1:c.715G>C, XM_005252600.3:c.196G>C, XM_005252600.2:c.196G>C, XM_005252600.1:c.196G>C, XM_006717508.3:c.715G>C, XM_006717508.2:c.715G>C, XM_006717508.1:c.715G>C, XM_017016671.2:c.715G>C, XM_017016671.1:c.715G>C, XM_011519694.2:c.196G>C, XM_011519694.1:c.196G>C, NM_001318330.2:c.196G>C, NM_001318330.1:c.196G>C, XM_047425773.1:c.274G>C, XM_047425774.1:c.274G>C, XM_047425772.1:c.715G>C, XM_047425775.1:c.715G>C, XM_047425776.1:c.715G>C, NP_079224.1:p.Glu239Gln, XP_011517993.1:p.Glu239Gln, XP_011517992.1:p.Glu239Gln, XP_005252657.1:p.Glu66Gln, XP_006717571.1:p.Glu239Gln, XP_016872160.1:p.Glu239Gln, XP_011517996.1:p.Glu66Gln, NP_001305259.1:p.Glu66Gln, XP_047281729.1:p.Glu92Gln, XP_047281730.1:p.Glu92Gln, XP_047281728.1:p.Glu239Gln, XP_047281731.1:p.Glu239Gln, XP_047281732.1:p.Glu239Gln

Select item 144922265514.

rs1449222655 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:15821666 (GRCh38)
10:15863665 (GRCh37)
Canonical SPDI:: NC_000010.11:15821665:C:
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15821666del, NC_000010.10:g.15863665del, NM_024948.4:c.791del, NM_024948.3:c.791del, NM_024948.2:c.791del, XM_011519691.3:c.791del, XM_011519691.2:c.791del, XM_011519691.1:c.791del, XM_011519690.3:c.791del, XM_011519690.2:c.791del, XM_011519690.1:c.791del, XM_005252600.3:c.272del, XM_005252600.2:c.272del, XM_005252600.1:c.272del, XM_006717508.3:c.791del, XM_006717508.2:c.791del, XM_006717508.1:c.791del, XM_017016671.2:c.791del, XM_017016671.1:c.791del, XM_011519694.2:c.272del, XM_011519694.1:c.272del, NM_001318330.2:c.272del, NM_001318330.1:c.272del, XM_047425773.1:c.350del, XM_047425774.1:c.350del, XM_047425772.1:c.791del, NP_079224.1:p.Arg264fs, XP_011517993.1:p.Arg264fs, XP_011517992.1:p.Arg264fs, XP_005252657.1:p.Arg91fs, XP_006717571.1:p.Arg264fs, XP_016872160.1:p.Arg264fs, XP_011517996.1:p.Arg91fs, NP_001305259.1:p.Arg91fs, XP_047281729.1:p.Arg117fs, XP_047281730.1:p.Arg117fs, XP_047281728.1:p.Arg264fs

Select item 144918522515.

rs1449185225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:15837237 (GRCh38)
10:15879236 (GRCh37)
Canonical SPDI:: NC_000010.11:15837236:T:C
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.15837237T>C, NC_000010.10:g.15879236T>C, NM_024948.4:c.543A>G, NM_024948.3:c.543A>G, NM_024948.2:c.543A>G, XM_011519691.3:c.543A>G, XM_011519691.2:c.543A>G, XM_011519691.1:c.543A>G, XM_011519690.3:c.543A>G, XM_011519690.2:c.543A>G, XM_011519690.1:c.543A>G, XM_005252600.3:c.24A>G, XM_005252600.2:c.24A>G, XM_005252600.1:c.24A>G, XM_006717508.3:c.543A>G, XM_006717508.2:c.543A>G, XM_006717508.1:c.543A>G, XM_017016671.2:c.543A>G, XM_017016671.1:c.543A>G, XM_011519694.2:c.24A>G, XM_011519694.1:c.24A>G, NM_001318330.2:c.24A>G, NM_001318330.1:c.24A>G, XM_047425773.1:c.102A>G, XM_047425774.1:c.102A>G, XM_047425772.1:c.543A>G, XM_047425775.1:c.543A>G, XM_047425776.1:c.543A>G

Select item 144741263816.

rs1447412638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:15796172 (GRCh38)
10:15838171 (GRCh37)
Canonical SPDI:: NC_000010.11:15796171:C:A,NC_000010.11:15796171:C:G
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant
HGVS:: NC_000010.11:g.15796172C>A, NC_000010.11:g.15796172C>G, NC_000010.10:g.15838171C>A, NC_000010.10:g.15838171C>G, NM_024948.4:c.883G>T, NM_024948.4:c.883G>C, NM_024948.3:c.883G>T, NM_024948.3:c.883G>C, NM_024948.2:c.883G>T, NM_024948.2:c.883G>C, XM_011519691.3:c.883G>T, XM_011519691.3:c.883G>C, XM_011519691.2:c.883G>T, XM_011519691.2:c.883G>C, XM_011519691.1:c.883G>T, XM_011519691.1:c.883G>C, XM_011519690.3:c.883G>T, XM_011519690.3:c.883G>C, XM_011519690.2:c.883G>T, XM_011519690.2:c.883G>C, XM_011519690.1:c.883G>T, XM_011519690.1:c.883G>C, XM_005252600.3:c.364G>T, XM_005252600.3:c.364G>C, XM_005252600.2:c.364G>T, XM_005252600.2:c.364G>C, XM_005252600.1:c.364G>T, XM_005252600.1:c.364G>C, XM_006717508.3:c.802G>T, XM_006717508.3:c.802G>C, XM_006717508.2:c.802G>T, XM_006717508.2:c.802G>C, XM_006717508.1:c.802G>T, XM_006717508.1:c.802G>C, XM_017016671.2:c.802G>T, XM_017016671.2:c.802G>C, XM_017016671.1:c.802G>T, XM_017016671.1:c.802G>C, XM_011519694.2:c.364G>T, XM_011519694.2:c.364G>C, XM_011519694.1:c.364G>T, XM_011519694.1:c.364G>C, NM_001318330.2:c.364G>T, NM_001318330.2:c.364G>C, NM_001318330.1:c.364G>T, NM_001318330.1:c.364G>C, XM_047425773.1:c.442G>T, XM_047425773.1:c.442G>C, XM_047425774.1:c.361G>T, XM_047425774.1:c.361G>C, XM_047425772.1:c.883G>T, XM_047425772.1:c.883G>C, XM_047425775.1:c.*29G>T, XM_047425775.1:c.*29G>C, XM_047425776.1:c.731G>T, XM_047425776.1:c.731G>C, NP_079224.1:p.Asp295Tyr, NP_079224.1:p.Asp295His, XP_011517993.1:p.Asp295Tyr, XP_011517993.1:p.Asp295His, XP_011517992.1:p.Asp295Tyr, XP_011517992.1:p.Asp295His, XP_005252657.1:p.Asp122Tyr, XP_005252657.1:p.Asp122His, XP_006717571.1:p.Asp268Tyr, XP_006717571.1:p.Asp268His, XP_016872160.1:p.Asp268Tyr, XP_016872160.1:p.Asp268His, XP_011517996.1:p.Asp122Tyr, XP_011517996.1:p.Asp122His, NP_001305259.1:p.Asp122Tyr, NP_001305259.1:p.Asp122His, XP_047281729.1:p.Asp148Tyr, XP_047281729.1:p.Asp148His, XP_047281730.1:p.Asp121Tyr, XP_047281730.1:p.Asp121His, XP_047281728.1:p.Asp295Tyr, XP_047281728.1:p.Asp295His, XP_047281732.1:p.Arg244Ile, XP_047281732.1:p.Arg244Thr

Select item 144622521817.

rs1446225218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:15782219 (GRCh38)
10:15824218 (GRCh37)
Canonical SPDI:: NC_000010.11:15782218:C:T
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.15782219C>T, NC_000010.10:g.15824218C>T, NM_024948.4:c.1124G>A, NM_024948.3:c.1124G>A, NM_024948.2:c.1124G>A, XM_011519690.3:c.1124G>A, XM_011519690.2:c.1124G>A, XM_011519690.1:c.1124G>A, XM_005252600.3:c.605G>A, XM_005252600.2:c.605G>A, XM_005252600.1:c.605G>A, XM_006717508.3:c.1043G>A, XM_006717508.2:c.1043G>A, XM_006717508.1:c.1043G>A, XM_017016671.2:c.1043G>A, XM_017016671.1:c.1043G>A, XM_011519694.2:c.605G>A, XM_011519694.1:c.605G>A, NM_001318330.2:c.605G>A, NM_001318330.1:c.605G>A, XM_047425773.1:c.683G>A, XM_047425774.1:c.602G>A, XM_047425772.1:c.*7G>A, NP_079224.1:p.Ser375Asn, XP_011517992.1:p.Ser375Asn, XP_005252657.1:p.Ser202Asn, XP_006717571.1:p.Ser348Asn, XP_016872160.1:p.Ser348Asn, XP_011517996.1:p.Ser202Asn, NP_001305259.1:p.Ser202Asn, XP_047281729.1:p.Ser228Asn, XP_047281730.1:p.Ser201Asn

Select item 144436905918.

rs1444369059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:15789287 (GRCh38)
10:15831286 (GRCh37)
Canonical SPDI:: NC_000010.11:15789286:C:G
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.15789287C>G, NC_000010.10:g.15831286C>G, NM_024948.4:c.988G>C, NM_024948.3:c.988G>C, NM_024948.2:c.988G>C, XM_011519691.3:c.988G>C, XM_011519691.2:c.988G>C, XM_011519691.1:c.988G>C, XM_011519690.3:c.988G>C, XM_011519690.2:c.988G>C, XM_011519690.1:c.988G>C, XM_005252600.3:c.469G>C, XM_005252600.2:c.469G>C, XM_005252600.1:c.469G>C, XM_006717508.3:c.907G>C, XM_006717508.2:c.907G>C, XM_006717508.1:c.907G>C, XM_017016671.2:c.907G>C, XM_017016671.1:c.907G>C, XM_011519694.2:c.469G>C, XM_011519694.1:c.469G>C, NM_001318330.2:c.469G>C, NM_001318330.1:c.469G>C, XM_047425773.1:c.547G>C, XM_047425774.1:c.466G>C, XM_047425772.1:c.988G>C, NP_079224.1:p.Asp330His, XP_011517993.1:p.Asp330His, XP_011517992.1:p.Asp330His, XP_005252657.1:p.Asp157His, XP_006717571.1:p.Asp303His, XP_016872160.1:p.Asp303His, XP_011517996.1:p.Asp157His, NP_001305259.1:p.Asp157His, XP_047281729.1:p.Asp183His, XP_047281730.1:p.Asp156His, XP_047281728.1:p.Asp330His

Select item 144203082019.

rs1442030820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:15789290 (GRCh38)
10:15831289 (GRCh37)
Canonical SPDI:: NC_000010.11:15789289:C:T
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.15789290C>T, NC_000010.10:g.15831289C>T, NM_024948.4:c.985G>A, NM_024948.3:c.985G>A, NM_024948.2:c.985G>A, XM_011519691.3:c.985G>A, XM_011519691.2:c.985G>A, XM_011519691.1:c.985G>A, XM_011519690.3:c.985G>A, XM_011519690.2:c.985G>A, XM_011519690.1:c.985G>A, XM_005252600.3:c.466G>A, XM_005252600.2:c.466G>A, XM_005252600.1:c.466G>A, XM_006717508.3:c.904G>A, XM_006717508.2:c.904G>A, XM_006717508.1:c.904G>A, XM_017016671.2:c.904G>A, XM_017016671.1:c.904G>A, XM_011519694.2:c.466G>A, XM_011519694.1:c.466G>A, NM_001318330.2:c.466G>A, NM_001318330.1:c.466G>A, XM_047425773.1:c.544G>A, XM_047425774.1:c.463G>A, XM_047425772.1:c.985G>A, NP_079224.1:p.Glu329Lys, XP_011517993.1:p.Glu329Lys, XP_011517992.1:p.Glu329Lys, XP_005252657.1:p.Glu156Lys, XP_006717571.1:p.Glu302Lys, XP_016872160.1:p.Glu302Lys, XP_011517996.1:p.Glu156Lys, NP_001305259.1:p.Glu156Lys, XP_047281729.1:p.Glu182Lys, XP_047281730.1:p.Glu155Lys, XP_047281728.1:p.Glu329Lys

Select item 143909785520.

rs1439097855 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAG>- [Show Flanks]
Chromosome:: 10:15816905 (GRCh38)
10:15858904 (GRCh37)
Canonical SPDI:: NC_000010.11:15816901:AAGTAAG:AAG
Gene:: MINDY3 (Varview), LOC124902383 (Varview)
Functional Consequence:: stop_gained,frameshift_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.15816905_15816908del, NC_000010.10:g.15858904_15858907del, NM_024948.4:c.812_815del, NM_024948.3:c.812_815del, NM_024948.2:c.812_815del, XM_011519691.3:c.812_815del, XM_011519691.2:c.812_815del, XM_011519691.1:c.812_815del, XM_011519690.3:c.812_815del, XM_011519690.2:c.812_815del, XM_011519690.1:c.812_815del, XM_005252600.3:c.293_296del, XM_005252600.2:c.293_296del, XM_005252600.1:c.293_296del, XM_011519694.2:c.293_296del, XM_011519694.1:c.293_296del, NM_001318330.2:c.293_296del, NM_001318330.1:c.293_296del, XM_047425773.1:c.371_374del, XM_047425772.1:c.812_815del, XM_047425775.1:c.741_744del, NP_079224.1:p.Ser270_Tyr271insTer, XP_011517993.1:p.Ser270_Tyr271insTer, XP_011517992.1:p.Ser270_Tyr271insTer, XP_005252657.1:p.Ser97_Tyr98insTer, XP_011517996.1:p.Ser97_Tyr98insTer, NP_001305259.1:p.Ser97_Tyr98insTer, XP_047281729.1:p.Ser123_Tyr124insTer, XP_047281728.1:p.Ser270_Tyr271insTer, XP_047281731.1:p.Leu248fs

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