ClinVar Miner

List of variants in gene MKS1 reported as uncertain significance for Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28

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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00084
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
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 0.00030
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017777.4(MKS1):c.83T>C (p.Val28Ala) rs201957874 0.00024
NM_017777.4(MKS1):c.418-79G>T rs190815007 0.00020
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln) rs199927741 0.00017
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00015
NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys) rs34631184 0.00013
NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys) rs745946583 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys) rs769442220 0.00010
NM_017777.4(MKS1):c.323G>A (p.Arg108His) rs200331553 0.00008
NM_017777.4(MKS1):c.1231C>T (p.Arg411Cys) rs201036775 0.00007
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00007
NM_017777.4(MKS1):c.994G>A (p.Val332Ile) rs775391594 0.00007
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00005
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 0.00003
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp) rs766392300 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.1423C>T (p.Arg475Cys) rs529604036 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys) rs775558298 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.835C>T (p.Arg279Trp) rs189255737 0.00003
NM_017777.4(MKS1):c.868C>T (p.Arg290Trp) rs777558323 0.00003
NM_017777.4(MKS1):c.916-5C>G rs1476611130 0.00003
NM_017777.4(MKS1):c.1095G>C (p.Met365Ile) rs1440032995 0.00002
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro) rs369380403 0.00002
NM_017777.4(MKS1):c.1477C>A (p.Leu493Met) rs761944624 0.00002
NM_017777.4(MKS1):c.428G>T (p.Arg143Ile) rs758424317 0.00002
NM_017777.4(MKS1):c.490C>T (p.Arg164Cys) rs370568445 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.1007T>C (p.Val336Ala) rs772205041 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr) rs1401192823 0.00001
NM_017777.4(MKS1):c.1166-11C>T rs1291753612 0.00001
NM_017777.4(MKS1):c.1219T>C (p.Trp407Arg) rs1468389010 0.00001
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile) rs760184188 0.00001
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly) rs754930606 0.00001
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120 0.00001
NM_017777.4(MKS1):c.1466G>A (p.Arg489His) rs916562674 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.1525A>G (p.Met509Val) rs778890248 0.00001
NM_017777.4(MKS1):c.1553G>A (p.Gly518Glu) rs767285168 0.00001
NM_017777.4(MKS1):c.1589-3C>T rs752901746 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.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.227T>C (p.Ile76Thr) rs1412560835 0.00001
NM_017777.4(MKS1):c.229G>A (p.Val77Met) rs1198645467 0.00001
NM_017777.4(MKS1):c.509G>A (p.Arg170Gln) rs369388608 0.00001
NM_017777.4(MKS1):c.524G>T (p.Gly175Val) rs527350238 0.00001
NM_017777.4(MKS1):c.634C>A (p.Pro212Thr) rs747659750 0.00001
NM_017777.4(MKS1):c.640A>G (p.Lys214Glu) rs1302221349 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017777.4(MKS1):c.892C>T (p.Leu298Phe) rs78774579 0.00001
NM_017777.4(MKS1):c.935G>A (p.Arg312Gln) rs369483945 0.00001
NM_017777.4(MKS1):c.957C>T (p.Val319=) rs770067106 0.00001
NM_017777.4(MKS1):c.1024+5G>C
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala) rs745809472
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.1084T>A (p.Ser362Thr)
NM_017777.4(MKS1):c.1095+3A>G
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu) rs773157492
NM_017777.4(MKS1):c.1182G>T (p.Trp394Cys)
NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe) rs144764478
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.4(MKS1):c.128C>G (p.Pro43Arg) rs1311306088
NM_017777.4(MKS1):c.1318G>A (p.Gly440Ser)
NM_017777.4(MKS1):c.1328C>T (p.Ala443Val)
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT rs1555597194
NM_017777.4(MKS1):c.1460C>T (p.Thr487Ile) rs2143737729
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.1505C>T (p.Ser502Leu) rs758838271
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu) rs200658872
NM_017777.4(MKS1):c.155T>C (p.Ile52Thr)
NM_017777.4(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.1634G>A (p.Ser545Asn)
NM_017777.4(MKS1):c.190+5G>A
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.235G>A (p.Gly79Arg)
NM_017777.4(MKS1):c.261+4A>G
NM_017777.4(MKS1):c.331A>G (p.Ile111Val)
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu) rs2509454418
NM_017777.4(MKS1):c.401A>G (p.Tyr134Cys)
NM_017777.4(MKS1):c.403A>G (p.Thr135Ala)
NM_017777.4(MKS1):c.448G>A (p.Glu150Lys)
NM_017777.4(MKS1):c.499C>G (p.Gln167Glu)
NM_017777.4(MKS1):c.539G>T (p.Arg180Leu)
NM_017777.4(MKS1):c.727A>G (p.Thr243Ala) rs1197155331
NM_017777.4(MKS1):c.727A>T (p.Thr243Ser)
NM_017777.4(MKS1):c.758C>T (p.Thr253Met)
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.811C>G (p.His271Asp) rs201771125
NM_017777.4(MKS1):c.813C>A (p.His271Gln) rs201961765
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
NM_017777.4(MKS1):c.842G>A (p.Arg281Gln)
NM_017777.4(MKS1):c.895G>T (p.Val299Leu)
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017777.4(MKS1):c.955G>T (p.Val319Phe) rs1393510784
NM_017777.4(MKS1):c.983A>C (p.Asp328Ala)

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