ClinVar Miner

List of variants in gene DSC2 reported as pathogenic by GeneDx

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Total variants: 6
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HGVS dbSNP
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
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

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