ClinVar Miner

List of variants in gene MKS1 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (57):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_017777.3(MKS1):c.-34_-12del23 rs1244307754
NM_017777.3(MKS1):c.101C>T (p.Thr34Ile)
NM_017777.3(MKS1):c.1063A>G (p.Thr355Ala) rs745809472
NM_017777.3(MKS1):c.1076_1078CCA[1] (p.Thr360del) rs1555598065
NM_017777.3(MKS1):c.110A>G (p.Asn37Ser) rs587779734
NM_017777.3(MKS1):c.1134A>G (p.Glu378=) rs77365082
NM_017777.3(MKS1):c.1175C>T (p.Pro392Leu) rs763534380
NM_017777.3(MKS1):c.118C>T (p.His40Tyr) rs199832333
NM_017777.3(MKS1):c.1232G>A (p.Arg411His)
NM_017777.3(MKS1):c.1268C>T (p.Thr423Ile) rs760184188
NM_017777.3(MKS1):c.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.3(MKS1):c.128C>G (p.Pro43Arg) rs1311306088
NM_017777.3(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.3(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.3(MKS1):c.1407+3_1407+5delGACinsAAT rs1555597194
NM_017777.3(MKS1):c.1414C>G (p.Arg472Gly)
NM_017777.3(MKS1):c.1476T>G (p.Cys492Trp) rs137853105
NM_017777.3(MKS1):c.1497del (p.Phe499fs) rs780161503
NM_017777.3(MKS1):c.1498A>G (p.Met500Val) rs144635826
NM_017777.3(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.3(MKS1):c.1535T>C (p.Val512Ala) rs1567794194
NM_017777.3(MKS1):c.1543C>T (p.Arg515Cys) rs775558298
NM_017777.3(MKS1):c.1600C>T (p.Arg534Ter) rs772719574
NM_017777.3(MKS1):c.1609C>T (p.Arg537Cys) rs35464956
NM_017777.3(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.3(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.3(MKS1):c.199C>T (p.Arg67Cys) rs200340896
NM_017777.3(MKS1):c.214G>A (p.Glu72Lys) rs753620277
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.3(MKS1):c.314A>C (p.Tyr105Ser) rs1440792737
NM_017777.3(MKS1):c.368G>A (p.Arg123Gln) rs202112856
NM_017777.3(MKS1):c.371G>A (p.Arg124Gln) rs765026950
NM_017777.3(MKS1):c.469G>A (p.Glu157Lys) rs200970148
NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) rs779953982
NM_017777.3(MKS1):c.544G>A (p.Val182Ile) rs200185068
NM_017777.3(MKS1):c.64C>A (p.Arg22Ser) rs1031187314
NM_017777.3(MKS1):c.695G>C (p.Ser232Thr)
NM_017777.3(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.3(MKS1):c.787T>C (p.Tyr263His)
NM_017777.3(MKS1):c.823_825GAG[5] (p.Glu278dup) rs780100856
NM_017777.3(MKS1):c.857A>G (p.Asp286Gly) rs151023718
NM_017777.3(MKS1):c.904G>A (p.Asp302Asn) rs750025608

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