ClinVar Miner

List of variants in gene DSP reported by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter) rs1561686893
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg) rs746816016
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.2036T>A (p.Ile679Lys) rs1561690811
NM_004415.4(DSP):c.2299T>G (p.Leu767Val) rs1561692940
NM_004415.4(DSP):c.2322C>G (p.Leu774=) rs1561692987
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262
NM_004415.4(DSP):c.274-8_274-7delinsAT rs1561680554
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro) rs1473895931
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu) rs184154918
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln) rs746208168
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695
NM_004415.4(DSP):c.4332dup (p.Gln1445fs) rs1561698714
NM_004415.4(DSP):c.4401A>G (p.Gln1467=) rs199818953
NM_004415.4(DSP):c.4447A>T (p.Ile1483Leu) rs775143161
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.4540C>T (p.Leu1514=) rs754783192
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys) rs1085307622
NM_004415.4(DSP):c.6054C>T (p.Ile2018=) rs369700204
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs) rs1561702549
NM_004415.4(DSP):c.6686G>T (p.Arg2229Ile) rs1561702898
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp) rs777930834
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.4(DSP):c.7848G>A (p.Ser2616=) rs148798300
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515

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