ClinVar Miner

List of variants in gene MKS1 studied for Joubert syndrome

Included ClinVar conditions (57):
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Gene type:
ClinVar version:
Total variants: 90
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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.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1025-2A>C rs794727070
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.1115_1117del (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1134A>G (p.Glu378=) rs77365082
NM_017777.3(MKS1):c.1166-2A>G rs1488635637
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.1208C>T (p.Ser403Leu) rs773684291
NM_017777.3(MKS1):c.1232G>A (p.Arg411His)
NM_017777.3(MKS1):c.1261C>T (p.Pro421Ser) rs863225210
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.1387C>G (p.Arg463Gly)
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.3(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.3(MKS1):c.1407+3_1407+5delGACinsAAT rs1555597194
NM_017777.3(MKS1):c.1408-2A>G rs1555596943
NM_017777.3(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.3(MKS1):c.1411dup rs762668200
NM_017777.3(MKS1):c.1414C>G (p.Arg472Gly)
NM_017777.3(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017777.3(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.3(MKS1):c.1476T>G (p.Cys492Trp) rs137853105
NM_017777.3(MKS1):c.1490+9C>T rs1555596804
NM_017777.3(MKS1):c.1491-2A>G rs886038203
NM_017777.3(MKS1):c.1497del (p.Phe499fs) rs780161503
NM_017777.3(MKS1):c.1498A>G (p.Met500Val) rs144635826
NM_017777.3(MKS1):c.1528dup (p.Arg510fs) rs863225204
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.1588+12C>G rs762501967
NM_017777.3(MKS1):c.1588+1G>T rs886038204
NM_017777.3(MKS1):c.1589-2A>T rs863225207
NM_017777.3(MKS1):c.1600C>A (p.Arg534=) rs772719574
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.184_190del (p.Thr62fs) rs386834046
NM_017777.3(MKS1):c.190+2T>C rs375170572
NM_017777.3(MKS1):c.199C>T (p.Arg67Cys) rs200340896
NM_017777.3(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
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.240G>T (p.Trp80Cys) rs1114167302
NM_017777.3(MKS1):c.262-179_262-37del rs1555600644
NM_017777.3(MKS1):c.27C>T (p.Asp9=) rs369488349
NM_017777.3(MKS1):c.314A>C (p.Tyr105Ser) rs1440792737
NM_017777.3(MKS1):c.367dup (p.Arg123fs) rs775043799
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.381del (p.Tyr128fs) rs863225206
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
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.508C>T (p.Arg170Ter) rs756853299
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.515+2T>G rs1376664664
NM_017777.3(MKS1):c.51_55dup (p.Asp19fs) rs386834051
NM_017777.3(MKS1):c.544G>A (p.Val182Ile) rs200185068
NM_017777.3(MKS1):c.55G>T (p.Asp19Tyr) rs863225205
NM_017777.3(MKS1):c.645-2A>T
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.767_768insC (p.Glu256fs) rs863225209
NM_017777.3(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.3(MKS1):c.787T>C (p.Tyr263His)
NM_017777.3(MKS1):c.80+14C>G rs761061379
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.823_825GAG[5] (p.Glu278dup) rs780100856
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.844C>T (p.Arg282Ter) rs797045706
NM_017777.3(MKS1):c.857A>G (p.Asp286Gly) rs151023718
NM_017777.3(MKS1):c.858+1G>A rs756102768
NM_017777.3(MKS1):c.904G>A (p.Asp302Asn) rs750025608
NM_017777.3(MKS1):c.950G>A (p.Gly317Glu) rs863225208
NM_017777.3(MKS1):c.959-4G>A rs201137386

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