ClinVar Miner

List of variants in gene combination DSC2, DSCAS reported as uncertain significance for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_024422.6(DSC2):c.-113C>A rs866593085 0.00023
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
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.20C>T (p.Ser7Phe) rs1227564823 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.26C>G (p.Ser9Cys) rs794728064 0.00001
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln) rs869025386 0.00001
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn) rs931909783 0.00001
NM_024422.6(DSC2):c.69+1G>A rs1245669690 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.-4C>T
NM_024422.6(DSC2):c.-6C>T rs1987979751
NM_024422.6(DSC2):c.-95C>G rs1386005114
NM_024422.6(DSC2):c.16C>G (p.Pro6Ala)
NM_024422.6(DSC2):c.16C>T (p.Pro6Ser)
NM_024422.6(DSC2):c.17C>T (p.Pro6Leu) rs1378826078
NM_024422.6(DSC2):c.19T>C (p.Ser7Pro) rs774977340
NM_024422.6(DSC2):c.1A>G (p.Met1Val) rs1026402319
NM_024422.6(DSC2):c.22G>A (p.Gly8Ser) rs1555641325
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg) rs1987977039
NM_024422.6(DSC2):c.2T>G (p.Met1Arg)
NM_024422.6(DSC2):c.30G>T (p.Trp10Cys) rs1555641322
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg) rs568391206
NM_024422.6(DSC2):c.38C>T (p.Ala13Val) rs1404155315
NM_024422.6(DSC2):c.46C>G (p.Arg16Gly)
NM_024422.6(DSC2):c.46C>T (p.Arg16Trp) rs1987975647
NM_024422.6(DSC2):c.47G>C (p.Arg16Pro) rs869025386
NM_024422.6(DSC2):c.62C>T (p.Thr21Ile)
NM_024422.6(DSC2):c.69+2T>C rs1987974114
NM_024422.6(DSC2):c.69+5G>A
NM_024422.6(DSC2):c.69G>A (p.Ala23=) rs1987974228
NM_024422.6(DSC2):c.69G>T (p.Ala23=)

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