ClinVar Miner

List of variants in gene DSC2 reported as likely pathogenic for not provided

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Total variants: 13
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HGVS dbSNP
NM_024422.6(DSC2):c.101dup (p.Asn34fs) rs1555640396
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter) rs1555638995
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1631_1632TA[4] (p.Asn546fs) rs1555638622
NM_024422.6(DSC2):c.1888+1G>C
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.473del (p.Gln158fs) rs1064795963
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.943-1G>A rs796756333

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