ClinVar Miner

List of variants in gene MKS1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.915+194A>G rs3213698 0.53827
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_017777.4(MKS1):c.190+280G>T rs62083740 0.24583
NM_017777.4(MKS1):c.1024+219C>T rs57926249 0.15204
NM_017777.4(MKS1):c.81-146G>C rs12051662 0.11216
NM_017777.4(MKS1):c.859-156G>C rs3785494 0.09328
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_017777.4(MKS1):c.80+144C>A rs73329640 0.06559
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_017777.4(MKS1):c.*351del rs35298266 0.04053
NM_017777.4(MKS1):c.81-40T>G rs16942833 0.01980
NM_017777.4(MKS1):c.858+90G>A rs115496661 0.01845
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_017777.4(MKS1):c.915+242G>T rs116573488 0.01285
NM_001165927.1(MKS1):c.50+56_50+57del rs10544427 0.01280
NM_017777.4(MKS1):c.190+235A>T rs148725880 0.00864
NM_017777.4(MKS1):c.1408-187G>C rs114664914 0.00634
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_017777.4(MKS1):c.645-96A>G rs146873050 0.00426
NM_017777.4(MKS1):c.262-129A>G rs73329632 0.00356
NM_017777.4(MKS1):c.*38del rs34304018 0.00322
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_017777.4(MKS1):c.749+13A>G rs199550514 0.00072
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys) rs181513926 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_017777.4(MKS1):c.83T>C (p.Val28Ala) rs201957874 0.00021
NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln) rs199927741 0.00019
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu) rs950609840 0.00016
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 0.00014
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met) rs755841031 0.00007
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1534G>A (p.Val512Met) rs370130538 0.00003
NM_017777.4(MKS1):c.252C>G (p.Leu84=) rs969699321 0.00003
NM_017777.4(MKS1):c.904G>A (p.Asp302Asn) rs750025608 0.00003
NM_017777.4(MKS1):c.916-5C>G rs1476611130 0.00003
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.993C>T (p.Tyr331=) rs552668070 0.00002
NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu) rs1293609717 0.00001
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro) rs769389013 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1424G>A (p.Arg475His) rs200026560 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln) rs373843986 0.00001
NM_017777.4(MKS1):c.1628G>A (p.Arg543Gln) rs1200480979 0.00001
NM_017777.4(MKS1):c.465G>A (p.Leu155=) rs763755799 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys) rs754689401 0.00001
NM_017777.4(MKS1):c.1025-95dup rs536733808
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) rs144764478
NM_017777.4(MKS1):c.1232G>C (p.Arg411Pro) rs200679238
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1408-49G>C rs200222851
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)
NM_017777.4(MKS1):c.477G>A (p.Met159Ile) rs2143808917
NM_017777.4(MKS1):c.613C>T (p.His205Tyr) rs2143804286
NM_017777.4(MKS1):c.727A>G (p.Thr243Ala)
NM_017777.4(MKS1):c.749+131G>A rs115048531
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.811C>G (p.His271Asp) rs201771125
NM_017777.4(MKS1):c.858+197_858+198del rs138353351
NM_017777.4(MKS1):c.915+19_915+21del rs3217067

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