ClinVar Miner

List of variants in gene MKS1 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
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.1024+128C>T rs72839966 0.08242
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
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.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu) rs763534380 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.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala) rs745809472 0.00001
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 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.1465C>T (p.Arg489Cys) rs1003579700 0.00001
NM_017777.4(MKS1):c.1497del (p.Phe499fs) rs780161503 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 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.728C>T (p.Thr243Met) rs749668169 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 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.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del) rs1555598065
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
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.1288_1314del (p.Thr430_Glu438del) rs1555597302
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal) rs1555597266
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys) rs730882120
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT rs1555597194
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
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.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1544G>A (p.Arg515His) rs200658872
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.1614del (p.Met539fs) rs1555596555
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter) rs1555596538
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
NM_017777.4(MKS1):c.418-79G>T
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.515+2T>G rs1376664664
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.763G>C (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup) rs780100856
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.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017777.4(MKS1):c.992del (p.Tyr331fs)

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