ClinVar Miner

List of variants in gene combination DSC2, DSCAS reported by Color Diagnostics, LLC DBA Color Health

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
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.20C>T (p.Ser7Phe) rs1227564823 0.00002
NM_024422.6(DSC2):c.-12C>G rs954770780 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.48G>A (p.Arg16=) rs1327911404 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
NM_024422.6(DSC2):c.69+1G>A rs1245669690 0.00001
NM_024422.6(DSC2):c.-4C>T
NM_024422.6(DSC2):c.-6C>T rs1987979751
NM_024422.6(DSC2):c.12C>A (p.Ala4=) rs1555641335
NM_024422.6(DSC2):c.13C>G (p.Arg5Gly) rs1987978697
NM_024422.6(DSC2):c.1A>G (p.Met1Val) rs1026402319
NM_024422.6(DSC2):c.24C>T (p.Gly8=) rs1987977472
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg) rs1987977039
NM_024422.6(DSC2):c.30G>T (p.Trp10Cys) rs1555641322
NM_024422.6(DSC2):c.32_34delinsGCA (p.Asn11_Gly12delinsSerArg) rs1987976516
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg) rs568391206
NM_024422.6(DSC2):c.46C>T (p.Arg16Trp) rs1987975647
NM_024422.6(DSC2):c.54C>A (p.Leu18=)
NM_024422.6(DSC2):c.69+2T>C rs1987974114
NM_024422.6(DSC2):c.69G>A (p.Ala23=) rs1987974228
NM_024422.6(DSC2):c.69G>T (p.Ala23=)

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