dbVar for OMIM (Select 602229) - dbVar - NCBI

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Items: 4

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Number of Variants: 4

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4684388	delins	1	nstd102	human	Pathogenic	GRCh38 chr22: 37,973,811-37,974,938 , GRCh37 chr22: 38,369,818-38,370,945	POLR2F, SOX10
nsv3883037	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr22: 37,983,314-37,983,566 , GRCh37 chr22: 38,379,321-38,379,573	SOX10, POLR2F
nsv3879726	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr22: 37,977,471-37,979,247 , GRCh37 chr22: 38,373,478-38,375,254	POLR2F, SOX10
nsv997048	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr22: 37,972,312-37,984,532 , GRCh37 chr22: 38,368,319-38,380,539	POLR2F, SOX10

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