ClinVar Miner

List of variants reported as pathogenic for CHARGE association by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 8
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HGVS dbSNP
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser) rs1602257111
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.4185+1G>A rs1586418093
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) rs1586453267
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029

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