ClinVar Miner

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

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00009
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897 0.00004
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.860A>G (p.Asn287Ser) rs138872423 0.00003
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp) rs777930834 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.117G>T (p.Arg39Ser) rs748578019 0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro) rs1473895931 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.386G>A (p.Arg129Gln) rs749155619 0.00001
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695 0.00001
NM_004415.4(DSP):c.4447A>T (p.Ile1483Leu) rs775143161 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632 0.00001
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys) rs746932951 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.1266+6G>A rs73375345
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1419+27_1419+28del rs786204295
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg) rs746816016
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile) rs1014373689
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.274-8_274-7delinsAT rs1561680554
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.3137A>G (p.Asp1046Gly) rs752077454
NM_004415.4(DSP):c.3633A>C (p.Glu1211Asp) rs1759362068
NM_004415.4(DSP):c.3745C>G (p.Leu1249Val)
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.4527_4559del (p.Arg1509_Ser1519del) rs397516939
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.4604T>C (p.Leu1535Pro)
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.5524A>T (p.Thr1842Ser)
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.575T>C (p.Leu192Ser)
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys) rs1085307622
NM_004415.4(DSP):c.6092T>C (p.Leu2031Ser)
NM_004415.4(DSP):c.6172A>G (p.Ile2058Val) rs2113699669
NM_004415.4(DSP):c.6686G>T (p.Arg2229Ile) rs1561702898
NM_004415.4(DSP):c.6997G>A (p.Glu2333Lys) rs1490807572
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu) rs373890201
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr) rs768564872
NM_004415.4(DSP):c.7919G>A (p.Gly2640Asp) rs1759606289
NM_004415.4(DSP):c.823A>G (p.Ile275Val) rs2113669262
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189

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