ClinVar Miner

List of variants in gene DSP reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs) rs1064793435
NM_004415.4(DSP):c.1141-2A>G rs794728111
NM_004415.4(DSP):c.1141-2A>T rs794728111
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.1266+2T>C rs1554106756
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1513G>T (p.Val505Phe) rs794728113
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter) rs397516919
NM_004415.4(DSP):c.1693del (p.Ile565fs) rs2113677528
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1903+1G>C rs1554107107
NM_004415.4(DSP):c.2297+1G>A rs1057523629
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2901dup (p.Tyr968fs) rs1581813420
NM_004415.4(DSP):c.3049_3050dup (p.Leu1017fs) rs794728157
NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter) rs1131691673
NM_004415.4(DSP):c.3338del (p.Arg1113fs) rs2113691528
NM_004415.4(DSP):c.344_345dup (p.Asp116fs) rs1581792832
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3788_3789dup (p.Thr1264fs) rs1554108170
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4026G>A (p.Trp1342Ter) rs1561698345
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter) rs1554108283
NM_004415.4(DSP):c.4397dup (p.Gln1467fs) rs1581817513
NM_004415.4(DSP):c.4435_4456dup (p.Leu1486Ter) rs2113694085
NM_004415.4(DSP):c.4711C>T (p.Gln1571Ter)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6456dup (p.Leu2153fs) rs1554108854
NM_004415.4(DSP):c.6907G>C (p.Asp2303His) rs794728131
NM_004415.4(DSP):c.6937del (p.Glu2313fs) rs794728143
NM_004415.4(DSP):c.7054C>T (p.Gln2352Ter)
NM_004415.4(DSP):c.7355del (p.Gln2452fs) rs1581823904
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs) rs1581823931
NM_004415.4(DSP):c.7469del (p.Tyr2490fs) rs1581824066
NM_004415.4(DSP):c.7491_7492del (p.Cys2497_Glu2498delinsTer) rs754354190
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.7899dup (p.Thr2634fs) rs1131691561
NM_004415.4(DSP):c.8208dup (p.Val2737fs) rs1581825892
NM_004415.4(DSP):c.8442dup (p.Ser2815fs) rs1554109247
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs) rs2113705206
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.935dup (p.Ser313fs) rs1581799477

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