ClinVar Miner

List of variants in gene combination DSC2, DSCAS reported by Invitae

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NC_000018.10:g.31103416C>G rs75494355 0.00512
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) rs568391206 0.00093
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.69+18C>T rs1274405499 0.00004
NM_024422.6(DSC2):c.69+8T>C rs921767833 0.00004
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe) rs1227564823 0.00002
NM_024422.6(DSC2):c.27C>T (p.Ser9=) rs1406804472 0.00002
NM_024422.6(DSC2):c.69+9A>G rs1268711423 0.00002
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln) rs869025386 0.00001
NM_024422.6(DSC2):c.60G>A (p.Leu20=) rs1201166808 0.00001
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn) rs931909783 0.00001
NC_000018.10:g.(?_31092081)_(31101991_?)del
NM_024422.6(DSC2):c.12C>A (p.Ala4=) rs1555641335
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>A (p.Trp10Ter) rs1555641322
NM_024422.6(DSC2):c.33C>T (p.Asn11=) rs1987976628
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.62C>T (p.Thr21Ile)
NM_024422.6(DSC2):c.66C>T (p.Leu22=) rs1987974460
NM_024422.6(DSC2):c.69+12C>A rs1326854054
NM_024422.6(DSC2):c.69+15G>C
NM_024422.6(DSC2):c.69+2T>C rs1987974114
NM_024422.6(DSC2):c.69+2T>G rs1987974114
NM_024422.6(DSC2):c.69+5G>A
NM_024422.6(DSC2):c.69+7G>A rs544403465
NM_024422.6(DSC2):c.69+9A>T

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