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Items: 1 to 20 of 225

3.

rs1461319720 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:532714 (GRCh38)
    11:532714 (GRCh37)
    Canonical SPDI:
    NC_000011.10:532713:C:T
    Gene:
    HRAS (Varview), LRRC56 (Varview)
    Functional Consequence:
    synonymous_variant,3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    4.
    8.

    rs1445047175 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:534258 (GRCh38)
      11:534258 (GRCh37)
      Canonical SPDI:
      NC_000011.10:534257:T:C
      Gene:
      HRAS (Varview), LRRC56 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      9.

      rs1444431226 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C,G [Show Flanks]
        Chromosome:
        11:533600 (GRCh38)
        11:533600 (GRCh37)
        Canonical SPDI:
        NC_000011.10:533599:T:A,NC_000011.10:533599:T:C,NC_000011.10:533599:T:G
        Gene:
        HRAS (Varview), LRRC56 (Varview)
        Functional Consequence:
        intron_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.533600T>A, NC_000011.10:g.533600T>C, NC_000011.10:g.533600T>G, NC_000011.9:g.533600T>A, NC_000011.9:g.533600T>C, NC_000011.9:g.533600T>G, NG_007666.1:g.6951A>T, NG_007666.1:g.6951A>G, NG_007666.1:g.6951A>C, NM_176795.5:c.303A>T, NM_176795.5:c.303A>G, NM_176795.5:c.303A>C, NM_176795.4:c.303A>T, NM_176795.4:c.303A>G, NM_176795.4:c.303A>C, NM_176795.3:c.303A>T, NM_176795.3:c.303A>G, NM_176795.3:c.303A>C, NM_005343.4:c.303A>T, NM_005343.4:c.303A>G, NM_005343.4:c.303A>C, NM_005343.3:c.303A>T, NM_005343.3:c.303A>G, NM_005343.3:c.303A>C, NM_005343.2:c.303A>T, NM_005343.2:c.303A>G, NM_005343.2:c.303A>C, NM_001130442.3:c.303A>T, NM_001130442.3:c.303A>G, NM_001130442.3:c.303A>C, NM_001130442.2:c.303A>T, NM_001130442.2:c.303A>G, NM_001130442.2:c.303A>C, NM_001130442.1:c.303A>T, NM_001130442.1:c.303A>G, NM_001130442.1:c.303A>C, NM_001318054.2:c.-17A>T, NM_001318054.2:c.-17A>G, NM_001318054.2:c.-17A>C, NM_001318054.1:c.-17A>T, NM_001318054.1:c.-17A>G, NM_001318054.1:c.-17A>C, NT_187586.1:g.63241T>A, NT_187586.1:g.63241T>C, NT_187586.1:g.63241T>G, NP_789765.1:p.Lys101Asn, NP_789765.1:p.Lys101Asn, NP_005334.1:p.Lys101Asn, NP_005334.1:p.Lys101Asn, NP_001123914.1:p.Lys101Asn, NP_001123914.1:p.Lys101Asn
        10.

        rs1439562437 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:532710 (GRCh38)
          11:532710 (GRCh37)
          Canonical SPDI:
          NC_000011.10:532709:G:A
          Gene:
          HRAS (Varview), LRRC56 (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          12.

          rs1432150876 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            11:533464 (GRCh38)
            11:533464 (GRCh37)
            Canonical SPDI:
            NC_000011.10:533463:T:A
            Gene:
            HRAS (Varview), LRRC56 (Varview)
            Functional Consequence:
            intron_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            13.

            rs1427823770 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              11:533568 (GRCh38)
              11:533568 (GRCh37)
              Canonical SPDI:
              NC_000011.10:533567:A:C
              Gene:
              HRAS (Varview), LRRC56 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              14.

              rs1412169294 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:532744 (GRCh38)
                11:532744 (GRCh37)
                Canonical SPDI:
                NC_000011.10:532743:A:G
                Gene:
                HRAS (Varview), LRRC56 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                16.
                17.

                rs1391678157 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  11:533924 (GRCh38)
                  11:533924 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:533923:C:A,NC_000011.10:533923:C:G,NC_000011.10:533923:C:T
                  Gene:
                  HRAS (Varview), LRRC56 (Varview)
                  Functional Consequence:
                  intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.533924C>A, NC_000011.10:g.533924C>G, NC_000011.10:g.533924C>T, NC_000011.9:g.533924C>A, NC_000011.9:g.533924C>G, NC_000011.9:g.533924C>T, NG_007666.1:g.6627G>T, NG_007666.1:g.6627G>C, NG_007666.1:g.6627G>A, NM_176795.5:c.132G>T, NM_176795.5:c.132G>C, NM_176795.5:c.132G>A, NM_176795.4:c.132G>T, NM_176795.4:c.132G>C, NM_176795.4:c.132G>A, NM_176795.3:c.132G>T, NM_176795.3:c.132G>C, NM_176795.3:c.132G>A, NM_005343.4:c.132G>T, NM_005343.4:c.132G>C, NM_005343.4:c.132G>A, NM_005343.3:c.132G>T, NM_005343.3:c.132G>C, NM_005343.3:c.132G>A, NM_005343.2:c.132G>T, NM_005343.2:c.132G>C, NM_005343.2:c.132G>A, NM_001130442.3:c.132G>T, NM_001130442.3:c.132G>C, NM_001130442.3:c.132G>A, NM_001130442.2:c.132G>T, NM_001130442.2:c.132G>C, NM_001130442.2:c.132G>A, NM_001130442.1:c.132G>T, NM_001130442.1:c.132G>C, NM_001130442.1:c.132G>A, NM_001318054.2:c.-188G>T, NM_001318054.2:c.-188G>C, NM_001318054.2:c.-188G>A, NM_001318054.1:c.-188G>T, NM_001318054.1:c.-188G>C, NM_001318054.1:c.-188G>A, NT_187586.1:g.63565C>A, NT_187586.1:g.63565C>G, NT_187586.1:g.63565C>T
                  19.

                  rs1389157073 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    11:533503 (GRCh38)
                    11:533503 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:533502:C:A,NC_000011.10:533502:C:G,NC_000011.10:533502:C:T
                    Gene:
                    HRAS (Varview), LRRC56 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    T=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.533503C>A, NC_000011.10:g.533503C>G, NC_000011.10:g.533503C>T, NC_000011.9:g.533503C>A, NC_000011.9:g.533503C>G, NC_000011.9:g.533503C>T, NG_007666.1:g.7048G>T, NG_007666.1:g.7048G>C, NG_007666.1:g.7048G>A, NM_176795.5:c.400G>T, NM_176795.5:c.400G>C, NM_176795.5:c.400G>A, NM_176795.4:c.400G>T, NM_176795.4:c.400G>C, NM_176795.4:c.400G>A, NM_176795.3:c.400G>T, NM_176795.3:c.400G>C, NM_176795.3:c.400G>A, NM_005343.4:c.400G>T, NM_005343.4:c.400G>C, NM_005343.4:c.400G>A, NM_005343.3:c.400G>T, NM_005343.3:c.400G>C, NM_005343.3:c.400G>A, NM_005343.2:c.400G>T, NM_005343.2:c.400G>C, NM_005343.2:c.400G>A, NM_001130442.3:c.400G>T, NM_001130442.3:c.400G>C, NM_001130442.3:c.400G>A, NM_001130442.2:c.400G>T, NM_001130442.2:c.400G>C, NM_001130442.2:c.400G>A, NM_001130442.1:c.400G>T, NM_001130442.1:c.400G>C, NM_001130442.1:c.400G>A, NM_001318054.2:c.81G>T, NM_001318054.2:c.81G>C, NM_001318054.2:c.81G>A, NM_001318054.1:c.81G>T, NM_001318054.1:c.81G>C, NM_001318054.1:c.81G>A, NT_187586.1:g.63144C>A, NT_187586.1:g.63144C>G, NT_187586.1:g.63144C>T, NP_789765.1:p.Ala134Ser, NP_789765.1:p.Ala134Pro, NP_789765.1:p.Ala134Thr, NP_005334.1:p.Ala134Ser, NP_005334.1:p.Ala134Pro, NP_005334.1:p.Ala134Thr, NP_001123914.1:p.Ala134Ser, NP_001123914.1:p.Ala134Pro, NP_001123914.1:p.Ala134Thr
                    20.

                    rs1371974169 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:533846 (GRCh38)
                      11:533846 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:533845:C:T
                      Gene:
                      HRAS (Varview), LRRC56 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

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