ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.1239del (p.Asn413fs) rs2144818920
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.2250+2T>C rs1064793731

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