ClinVar Miner

List of variants in gene combination DSC2, DSCAS reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024422.6(DSC2):c.-187C>T rs562293556 0.00004
NM_024422.6(DSC2):c.-366A>G rs886053700 0.00003
NM_024422.6(DSC2):c.-155G>T rs886053699 0.00002
NM_024422.6(DSC2):c.-132C>A rs886053698 0.00001
NM_024422.6(DSC2):c.-381G>C rs886053701 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.-20A>C rs886053696
NM_024422.6(DSC2):c.-277T>A rs1567987522
NM_024422.6(DSC2):c.-365T>A rs775956339
NM_024422.6(DSC2):c.-392G>A rs886053702
NM_024422.6(DSC2):c.-409C>T rs1309020903
NM_024422.6(DSC2):c.-424G>T rs555722283
NM_024422.6(DSC2):c.-42C>T rs886053697
NM_024422.6(DSC2):c.-95C>G rs1386005114

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