ClinVar Miner

List of variants in gene MKS1 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (913):
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_001165927.1(MKS1):c.*322G>T rs185405908
NM_001165927.1(MKS1):c.*381A>G rs886053168
NM_001165927.1(MKS1):c.*469C>T rs386465709
NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala) rs745809472
NM_001165927.1(MKS1):c.1046_1048CCA[1] (p.Thr350del) rs1555598065
NM_001165927.1(MKS1):c.1104A>G (p.Glu368=) rs77365082
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1202G>A (p.Arg401His)
NM_001165927.1(MKS1):c.1223T>C (p.Val408Ala) rs886053169
NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile) rs760184188
NM_001165927.1(MKS1):c.1244-3C>T rs1555597344
NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del) rs1555597302
NM_001165927.1(MKS1):c.1292C>T (p.Thr431Met) rs367625961
NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal) rs1555597266
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT rs1555597194
NM_001165927.1(MKS1):c.1384C>G (p.Arg462Gly)
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1467del (p.Phe489fs) rs780161503
NM_001165927.1(MKS1):c.1468A>G (p.Met490Val) rs144635826
NM_001165927.1(MKS1):c.1476G>A (p.Ser492=) rs368535131
NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs) rs1555596710
NM_001165927.1(MKS1):c.1505T>C (p.Val502Ala) rs1567794194
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter) rs772719574
NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) rs35464956
NM_001165927.1(MKS1):c.1584del (p.Met529fs) rs1555596555
NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter) rs1555596538
NM_001165927.1(MKS1):c.169C>T (p.Arg57Cys) rs200340896
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.233T>C (p.Phe78Ser) rs886053170
NM_001165927.1(MKS1):c.284A>C (p.Tyr95Ser) rs1440792737
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.341G>A (p.Arg114Gln) rs765026950
NM_001165927.1(MKS1):c.439G>A (p.Glu147Lys) rs200970148
NM_001165927.1(MKS1):c.461G>A (p.Arg154His) rs200149256
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.50+168T>C rs372127517
NM_001165927.1(MKS1):c.50+198_50+220del rs1244307754
NM_001165927.1(MKS1):c.50+214C>G rs116514023
NM_001165927.1(MKS1):c.50+258C>T rs369488349
NM_001165927.1(MKS1):c.50+295C>A rs1031187314
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.614+8G>T rs370117125
NM_001165927.1(MKS1):c.665G>C (p.Ser222Thr)
NM_001165927.1(MKS1):c.699G>T (p.Thr233=) rs373491923
NM_001165927.1(MKS1):c.71C>T (p.Thr24Ile)
NM_001165927.1(MKS1):c.72A>G (p.Thr24=) rs886053171
NM_001165927.1(MKS1):c.733G>C (p.Gly245Arg) rs201237547
NM_001165927.1(MKS1):c.733G>T (p.Gly245Trp) rs201237547
NM_001165927.1(MKS1):c.757T>C (p.Tyr253His)
NM_001165927.1(MKS1):c.783C>T (p.His261=) rs201961765
NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup) rs780100856
NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser) rs587779734
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.874G>A (p.Asp292Asn) rs750025608
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680
NM_001165927.1(MKS1):c.98C>G (p.Pro33Arg) rs1311306088

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