ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2881del (p.Glu961fs) rs2150749363
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) rs1586453824
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.807del (p.Ala270fs) rs1586249559
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027

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