ClinVar Miner

List of variants in gene MKS1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 92
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HGVS dbSNP gnomAD frequency
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.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.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.249G>A (p.Lys83=) rs62636631 0.00024
NM_017777.4(MKS1):c.83T>C (p.Val28Ala) rs201957874 0.00021
NM_017777.4(MKS1):c.469G>A (p.Glu157Lys) rs200970148 0.00020
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln) rs199927741 0.00019
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
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.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.959-4G>A rs201137386 0.00014
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017777.4(MKS1):c.903C>T (p.Thr301=) rs142805406 0.00013
NM_017777.4(MKS1):c.515+8C>T rs376823839 0.00012
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1605C>G (p.Ala535=) rs35493987 0.00011
NM_017777.4(MKS1):c.1653G>C (p.Val551=) rs34092089 0.00011
NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys) rs745946583 0.00009
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.323G>A (p.Arg108His) rs200331553 0.00008
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met) rs755841031 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_017777.4(MKS1):c.994G>A (p.Val332Ile) rs775391594 0.00007
NM_017777.4(MKS1):c.1580A>G (p.Asn527Ser) rs774309110 0.00006
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_017777.4(MKS1):c.1274-4G>A rs377033778 0.00004
NM_017777.4(MKS1):c.869G>A (p.Arg290Gln) rs755840522 0.00004
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1341G>C (p.Arg447Ser) rs1294257326 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.543C>T (p.Ile181=) rs1156392394 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017777.4(MKS1):c.868C>T (p.Arg290Trp) rs777558323 0.00003
NM_017777.4(MKS1):c.1606C>T (p.Arg536Trp) rs768171144 0.00002
NM_017777.4(MKS1):c.279C>T (p.Tyr93=) rs187870415 0.00002
NM_017777.4(MKS1):c.494G>A (p.Arg165His) rs771709346 0.00002
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys) rs559966703 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.1590G>T (p.Glu530Asp) rs767250536 0.00001
NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp) rs748406509 0.00001
NM_017777.4(MKS1):c.227T>C (p.Ile76Thr) rs1412560835 0.00001
NM_017777.4(MKS1):c.331A>C (p.Ile111Leu) rs886044605 0.00001
NM_017777.4(MKS1):c.452T>C (p.Val151Ala) rs778584579 0.00001
NM_017777.4(MKS1):c.470A>G (p.Glu157Gly) rs766648988 0.00001
NM_017777.4(MKS1):c.509G>A (p.Arg170Gln) rs369388608 0.00001
NM_017777.4(MKS1):c.541A>G (p.Ile181Val) rs764242484 0.00001
NM_017777.4(MKS1):c.548C>G (p.Thr183Ser) rs775805558 0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met) rs749668169 0.00001
NM_017777.4(MKS1):c.814G>A (p.Ala272Thr) rs886044205 0.00001
NM_017777.4(MKS1):c.842G>C (p.Arg281Pro) rs794727927 0.00001
NM_017777.4(MKS1):c.959-8T>G rs763444295 0.00001
NM_017777.4(MKS1):c.1036C>T (p.Pro346Ser) rs538164532
NM_017777.4(MKS1):c.1120C>T (p.Pro374Ser) rs886044314
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) rs144764478
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_017777.4(MKS1):c.1232G>C (p.Arg411Pro) rs200679238
NM_017777.4(MKS1):c.1252G>A (p.Val418Met) rs1555597614
NM_017777.4(MKS1):c.1273G>C (p.Gly425Arg) rs774840755
NM_017777.4(MKS1):c.1309G>C (p.Val437Leu) rs886043544
NM_017777.4(MKS1):c.1343T>G (p.Phe448Cys) rs1567795377
NM_017777.4(MKS1):c.1411G>C (p.Glu471Gln) rs776303055
NM_017777.4(MKS1):c.1491-4G>A rs1555596758
NM_017777.4(MKS1):c.1494C>G (p.Ala498=) rs1567794328
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1557C>T (p.Phe519=) rs1433060710
NM_017777.4(MKS1):c.1572C>T (p.Ser524=) rs1567794091
NM_017777.4(MKS1):c.1582G>A (p.Val528Met) rs1555596664
NM_017777.4(MKS1):c.163G>A (p.Ala55Thr) rs1567808384
NM_017777.4(MKS1):c.1671G>T (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.262-10G>A rs772852025
NM_017777.4(MKS1):c.579C>G (p.Asn193Lys) rs1206983556
NM_017777.4(MKS1):c.681T>A (p.Thr227=) rs1555599756
NM_017777.4(MKS1):c.688G>T (p.Val230Leu) rs1567802641
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.813C>A (p.His271Gln) rs201961765
NM_017777.4(MKS1):c.917C>T (p.Thr306Ile) rs1567799806

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