ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Laboratoire de Genetique Biologique, CHU de Poitiers

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Total variants: 7
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HGVS dbSNP
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) rs1563643394
NM_017780.4(CHD7):c.5405-13G>A rs1131690787
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-18C>A rs199981784
NM_017780.4(CHD7):c.5405-2A>G rs1131692153
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341

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