ClinVar Miner

List of variants in gene MKS1 reported as likely pathogenic for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1096-1G>C rs1401015954 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.81-1G>A rs12942386 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1025-2A>G
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1095+2T>C rs2143756871
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1166-1G>C rs776174898
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1399_1407+4del rs2143742869
NM_017777.4(MKS1):c.1407+1G>A rs1567795088
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1408-2_1408-1del
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1490+1G>T
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
NM_017777.4(MKS1):c.1589-2A>G
NM_017777.4(MKS1):c.1589-2A>T rs863225207
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.240G>T (p.Trp80Cys) rs1114167302
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.528_644+12del
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.81-2A>G
NM_017777.4(MKS1):c.81-2A>T rs756709080
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.859-2A>C
NM_017777.4(MKS1):c.859-2A>T
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.959-1G>A
NM_017777.4(MKS1):c.959-2A>G rs1273591389
NM_017777.4(MKS1):c.992del (p.Tyr331fs)

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