ClinVar Miner

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

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter) rs760971749 0.00001
NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter) rs1968640181 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.191-1G>A rs201362733 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 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.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_017777.4(MKS1):c.856_857del (p.Asp286fs) rs1968963177 0.00001
NC_000017.10:g.(?_56295969)_(56296506_?)del
NC_000017.10:g.(?_56295971)_(56296882_?)del
NC_000017.10:g.(?_56296502)_(56296882_?)del
NM_017777.4(MKS1):c.1024+1G>T
NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter)
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
NM_017777.4(MKS1):c.1058del (p.Gly353fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
NM_017777.4(MKS1):c.1090dup (p.Ala364fs)
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.111dup (p.Phe38fs)
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_017777.4(MKS1):c.114dup (p.Leu39fs)
NM_017777.4(MKS1):c.1158del (p.Glu386fs)
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
NM_017777.4(MKS1):c.1204_1208dup (p.Leu404fs) rs2143751393
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.124C>T (p.Gln42Ter) rs1969405671
NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser) rs863225210
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1301G>A (p.Trp434Ter) rs2143744476
NM_017777.4(MKS1):c.1365del (p.Glu455fs)
NM_017777.4(MKS1):c.136G>T (p.Glu46Ter) rs183617764
NM_017777.4(MKS1):c.1387C>G (p.Arg463Gly) rs766392300
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-14A>G
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
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.1491-2A>G rs886038203
NM_017777.4(MKS1):c.149del (p.Asp50fs)
NM_017777.4(MKS1):c.1528dup (p.Arg510fs) rs863225204
NM_017777.4(MKS1):c.1532_1533insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGGATGCGGAG (p.Ser511fs)
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_017777.4(MKS1):c.1589-2A>T rs863225207
NM_017777.4(MKS1):c.161T>A (p.Leu54Ter) rs2143838681
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.203del (p.Pro68fs)
NM_017777.4(MKS1):c.205G>T (p.Glu69Ter)
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.240G>A (p.Trp80Ter)
NM_017777.4(MKS1):c.262-179_262-37del rs1555600644
NM_017777.4(MKS1):c.297T>A (p.Cys99Ter)
NM_017777.4(MKS1):c.301_302dup (p.Ser101fs)
NM_017777.4(MKS1):c.381del (p.Tyr128fs) rs863225206
NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter)
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017777.4(MKS1):c.417+1G>T rs756368560
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter) rs903778224
NM_017777.4(MKS1):c.469G>T (p.Glu157Ter) rs200970148
NM_017777.4(MKS1):c.492_497del (p.Arg165_Arg166del)
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter) rs1215189491
NM_017777.4(MKS1):c.515+2T>C rs1376664664
NM_017777.4(MKS1):c.517G>T (p.Glu173Ter)
NM_017777.4(MKS1):c.564_565insTTCT (p.Glu189delinsPheTer) rs1969063562
NM_017777.4(MKS1):c.633del (p.Tyr213fs)
NM_017777.4(MKS1):c.639T>A (p.Tyr213Ter) rs746647549
NM_017777.4(MKS1):c.645-2A>T rs773036963
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter)
NM_017777.4(MKS1):c.767_768insC (p.Glu256fs) rs863225209
NM_017777.4(MKS1):c.805dup (p.Ser269fs) rs1320893771
NM_017777.4(MKS1):c.811del (p.His271fs) rs1968969593
NM_017777.4(MKS1):c.811dup (p.His271fs)
NM_017777.4(MKS1):c.812dup (p.His271fs)
NM_017777.4(MKS1):c.81_82del
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.918del (p.Val307fs) rs2143778074
NM_017777.4(MKS1):c.925_926insTCTAA (p.Gly309delinsValTer) rs2143777988
NM_017777.4(MKS1):c.94del (p.Arg32fs) rs1969409341
NM_017777.4(MKS1):c.950G>A (p.Gly317Glu) rs863225208
NM_017777.4(MKS1):c.959-5C>A rs765242131

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.