ClinVar Miner

List of variants studied for Hypotrichosis 6 by OMIM

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Total variants: 8
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HGVS dbSNP
DSG4, EX5-8DEL
NM_177986.5(DSG4):c.2038dup (p.Ser680fs) rs786200875
NM_177986.5(DSG4):c.216+1G>T rs1568062215
NM_177986.5(DSG4):c.574T>C (p.Ser192Pro) rs267606775
NM_177986.5(DSG4):c.763del (p.Cys255fs) rs1462595806
NM_177986.5(DSG4):c.800C>G (p.Pro267Arg) rs267606776
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter) rs267606777
NM_177986.5(DSG4):c.87del (p.Lys30fs) rs1325804776

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