ClinVar Miner

List of variants studied for CHARGE association by Institute of Human Genetics,University of Goettingen

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Total variants: 4
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NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.6292del (p.Arg2098fs) rs1060499560

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