ClinVar Miner

List of variants reported as pathogenic for Hypotrichosis 6 by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter) rs267606777 0.00003
NM_177986.5(DSG4):c.574T>C (p.Ser192Pro) rs267606775 0.00001
NM_177986.5(DSG4):c.763del (p.Cys255fs) rs1462595806 0.00001
NM_177986.5(DSG4):c.800C>G (p.Pro267Arg) rs267606776 0.00001
NM_177986.5(DSG4):c.87del (p.Lys30fs) rs1325804776 0.00001
NM_177986.5(DSG4):c.126_129del (p.Thr43fs)
NM_177986.5(DSG4):c.2038dup (p.Ser680fs) rs786200875
NM_177986.5(DSG4):c.216+1G>T rs1568062215
NM_177986.5(DSG4):c.373-32_1005+292del
NM_177986.5(DSG4):c.968A>G (p.Asp323Gly) rs767724665

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