ClinVar Miner

List of variants in gene DSC2 reported as pathogenic

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Total variants: 17
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HGVS dbSNP
NC_000018.9:g.(?_28650672)_(28650836_?)del
NC_000018.9:g.(?_28654629)_(28673626_?)dup
NM_024422.6(DSC2):c.1430del (p.Thr477fs) rs397514041
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1841del (p.Ser614fs) rs397514043
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2186del (p.Pro729fs)
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.2487del (p.Phe829fs) rs794728073
NM_024422.6(DSC2):c.631-2A>G rs397514042
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.882dup (p.Phe295fs) rs1060502989
NM_024422.6(DSC2):c.943-1G>A rs796756333
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) rs1555639134

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