ClinVar Miner

List of variants in gene MKS1 reported as likely benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 417
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.*472C>G rs17174788 0.04345
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.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.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017777.4(MKS1):c.249G>A (p.Lys83=) rs62636631 0.00024
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_017777.4(MKS1):c.351G>A (p.Ser117=) rs370781583 0.00016
NM_017777.4(MKS1):c.199C>T (p.Arg67Cys) rs200340896 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.1287G>A (p.Leu429=) rs555977738 0.00011
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.1609C>T (p.Arg537Cys) rs35464956 0.00011
NM_017777.4(MKS1):c.1653G>C (p.Val551=) rs34092089 0.00011
NM_017777.4(MKS1):c.1338G>A (p.Arg446=) rs1179924577 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.759G>A (p.Thr253=) rs770140009 0.00008
NM_017777.4(MKS1):c.1134A>G (p.Glu378=) rs77365082 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_017777.4(MKS1):c.673C>T (p.Leu225=) rs370632053 0.00006
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923 0.00006
NM_017777.4(MKS1):c.894C>T (p.Leu298=) rs754839039 0.00006
NM_017777.4(MKS1):c.1506G>A (p.Ser502=) rs368535131 0.00005
NM_017777.4(MKS1):c.498G>T (p.Arg166=) rs778956664 0.00005
NM_017777.4(MKS1):c.1273+7G>A rs569463908 0.00004
NM_017777.4(MKS1):c.1274-4G>A rs377033778 0.00004
NM_017777.4(MKS1):c.191-6T>G rs748412372 0.00004
NM_017777.4(MKS1):c.261+20C>A rs370117635 0.00004
NM_017777.4(MKS1):c.417+17G>C rs780446139 0.00004
NM_017777.4(MKS1):c.644+10G>A rs544053540 0.00004
NM_017777.4(MKS1):c.822G>A (p.Pro274=) rs375557871 0.00004
NM_017777.4(MKS1):c.1024+10A>G rs749001732 0.00003
NM_017777.4(MKS1):c.1095+18G>A rs371273226 0.00003
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410 0.00003
NM_017777.4(MKS1):c.1274-5C>T rs762686385 0.00003
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met) rs367625961 0.00003
NM_017777.4(MKS1):c.1408-15A>G rs762989365 0.00003
NM_017777.4(MKS1):c.252C>G (p.Leu84=) rs969699321 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_017777.4(MKS1):c.543C>T (p.Ile181=) rs1156392394 0.00003
NM_017777.4(MKS1):c.585C>T (p.His195=) rs200628275 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017777.4(MKS1):c.821C>T (p.Pro274Leu) rs770088105 0.00003
NM_017777.4(MKS1):c.858+7G>A rs918270665 0.00003
NM_017777.4(MKS1):c.918T>C (p.Thr306=) rs373269341 0.00003
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765 0.00002
NM_017777.4(MKS1):c.1273+12T>A rs762439479 0.00002
NM_017777.4(MKS1):c.1284C>T (p.Thr428=) rs761247194 0.00002
NM_017777.4(MKS1):c.1353C>T (p.Gly451=) rs764549118 0.00002
NM_017777.4(MKS1):c.1392A>T (p.Ile464=) rs1160063124 0.00002
NM_017777.4(MKS1):c.190+12G>A rs1310865080 0.00002
NM_017777.4(MKS1):c.204A>T (p.Pro68=) rs557752726 0.00002
NM_017777.4(MKS1):c.210A>G (p.Glu70=) rs778759498 0.00002
NM_017777.4(MKS1):c.279C>T (p.Tyr93=) rs187870415 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017777.4(MKS1):c.732C>G (p.Gly244=) rs753234130 0.00002
NM_017777.4(MKS1):c.792G>A (p.Thr264=) rs1272905094 0.00002
NM_017777.4(MKS1):c.858+19C>T rs367750788 0.00002
NM_017777.4(MKS1):c.993C>T (p.Tyr331=) rs552668070 0.00002
NM_017777.4(MKS1):c.102A>G (p.Thr34=) rs886053171 0.00001
NM_017777.4(MKS1):c.1074C>T (p.Cys358=) rs1411471923 0.00001
NM_017777.4(MKS1):c.1086C>T (p.Ser362=) rs748800331 0.00001
NM_017777.4(MKS1):c.1095+13A>T rs970409292 0.00001
NM_017777.4(MKS1):c.1095+19G>A rs200731008 0.00001
NM_017777.4(MKS1):c.1095+20G>C rs927474862 0.00001
NM_017777.4(MKS1):c.1096-10C>T rs766137727 0.00001
NM_017777.4(MKS1):c.114T>C (p.Phe38=) rs375861391 0.00001
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819 0.00001
NM_017777.4(MKS1):c.1227G>A (p.Arg409=) rs755065589 0.00001
NM_017777.4(MKS1):c.1274-6G>T rs1247721124 0.00001
NM_017777.4(MKS1):c.1299G>A (p.Thr433=) rs749503564 0.00001
NM_017777.4(MKS1):c.1359T>G (p.Ser453=) rs1284188693 0.00001
NM_017777.4(MKS1):c.1383T>C (p.Tyr461=) rs774475723 0.00001
NM_017777.4(MKS1):c.1408-10C>G rs1440068430 0.00001
NM_017777.4(MKS1):c.1408-36G>A rs755493387 0.00001
NM_017777.4(MKS1):c.1408-5C>T rs1237002420 0.00001
NM_017777.4(MKS1):c.1416C>T (p.Arg472=) rs1421301211 0.00001
NM_017777.4(MKS1):c.1479G>A (p.Leu493=) rs376833168 0.00001
NM_017777.4(MKS1):c.1490+13G>A rs1261119858 0.00001
NM_017777.4(MKS1):c.1589-12C>T rs377376912 0.00001
NM_017777.4(MKS1):c.1589-7C>T rs756418206 0.00001
NM_017777.4(MKS1):c.1629G>A (p.Arg543=) rs781530535 0.00001
NM_017777.4(MKS1):c.1641G>A (p.Pro547=) rs758334200 0.00001
NM_017777.4(MKS1):c.1668C>T (p.Thr556=) rs553314050 0.00001
NM_017777.4(MKS1):c.1674C>T (p.Val558=) rs376925280 0.00001
NM_017777.4(MKS1):c.180G>A (p.Gln60=) rs1008086525 0.00001
NM_017777.4(MKS1):c.243G>A (p.Gln81=) rs1488924614 0.00001
NM_017777.4(MKS1):c.262-10G>T rs772852025 0.00001
NM_017777.4(MKS1):c.515+9G>A rs752279060 0.00001
NM_017777.4(MKS1):c.516-5C>T rs1223795320 0.00001
NM_017777.4(MKS1):c.516-7C>A rs755511133 0.00001
NM_017777.4(MKS1):c.522C>T (p.Gly174=) rs780657802 0.00001
NM_017777.4(MKS1):c.628C>T (p.Leu210=) rs1451406283 0.00001
NM_017777.4(MKS1):c.639T>C (p.Tyr213=) rs746647549 0.00001
NM_017777.4(MKS1):c.672C>T (p.Val224=) rs200531517 0.00001
NM_017777.4(MKS1):c.687G>A (p.Lys229=) rs1309433422 0.00001
NM_017777.4(MKS1):c.870G>A (p.Arg290=) rs769489826 0.00001
NM_017777.4(MKS1):c.909T>C (p.Phe303=) rs764581050 0.00001
NM_017777.4(MKS1):c.916-10T>C rs750119538 0.00001
NM_017777.4(MKS1):c.958+7G>C rs1185269829 0.00001
NM_017777.4(MKS1):c.959-5C>T rs765242131 0.00001
NM_017777.4(MKS1):c.959-7C>T rs773337994 0.00001
NM_017777.4(MKS1):c.959-8T>G rs763444295 0.00001
NM_017777.4(MKS1):c.978G>A (p.Glu326=) rs1246215697 0.00001
NM_017777.4(MKS1):c.1012T>C (p.Leu338=) rs1968819648
NM_017777.4(MKS1):c.1024+16A>T
NM_017777.4(MKS1):c.1024+8A>G
NM_017777.4(MKS1):c.1025-18T>C
NM_017777.4(MKS1):c.1025-20A>G
NM_017777.4(MKS1):c.1026C>T (p.His342=)
NM_017777.4(MKS1):c.1041A>G (p.Ala347=)
NM_017777.4(MKS1):c.1050G>A (p.Gln350=)
NM_017777.4(MKS1):c.1062A>G (p.Val354=) rs2143757521
NM_017777.4(MKS1):c.1065A>G (p.Thr355=) rs2143757456
NM_017777.4(MKS1):c.1071C>T (p.Thr357=) rs939716801
NM_017777.4(MKS1):c.1077C>T (p.Thr359=) rs1968672310
NM_017777.4(MKS1):c.1092A>C (p.Ala364=) rs1379453194
NM_017777.4(MKS1):c.1095+10A>G
NM_017777.4(MKS1):c.1095+14G>A
NM_017777.4(MKS1):c.1095+14G>T rs2143756719
NM_017777.4(MKS1):c.1095+17C>T
NM_017777.4(MKS1):c.1096-10C>A
NM_017777.4(MKS1):c.1096-10C>G rs766137727
NM_017777.4(MKS1):c.1096-19A>C
NM_017777.4(MKS1):c.1096-20T>A
NM_017777.4(MKS1):c.1096-20del
NM_017777.4(MKS1):c.1096-4A>G rs1320626045
NM_017777.4(MKS1):c.1096-7T>C rs2143753917
NM_017777.4(MKS1):c.1096-9T>C rs2143753947
NM_017777.4(MKS1):c.1098C>T (p.Asp366=) rs1374437999
NM_017777.4(MKS1):c.1113C>T (p.Phe371=)
NM_017777.4(MKS1):c.1116C>T (p.Ser372=)
NM_017777.4(MKS1):c.1122A>G (p.Pro374=)
NM_017777.4(MKS1):c.1128G>T (p.Thr376=) rs369141016
NM_017777.4(MKS1):c.1137C>T (p.Ala379=)
NM_017777.4(MKS1):c.1140C>T (p.Phe380=)
NM_017777.4(MKS1):c.1149T>C (p.His383=)
NM_017777.4(MKS1):c.1158A>G (p.Glu386=) rs797045705
NM_017777.4(MKS1):c.1165+18T>A
NM_017777.4(MKS1):c.1165+7del
NM_017777.4(MKS1):c.1165+9C>T
NM_017777.4(MKS1):c.1166-11C>T
NM_017777.4(MKS1):c.1166-16C>G
NM_017777.4(MKS1):c.1166-20G>A
NM_017777.4(MKS1):c.1166-5C>T
NM_017777.4(MKS1):c.1167T>C (p.Asp389=)
NM_017777.4(MKS1):c.1176G>C (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1176G>T (p.Pro392=) rs775169308
NM_017777.4(MKS1):c.1185T>C (p.Pro395=)
NM_017777.4(MKS1):c.1191C>G (p.Leu397=)
NM_017777.4(MKS1):c.1203C>A (p.Val401=)
NM_017777.4(MKS1):c.1206C>T (p.Leu402=) rs202040080
NM_017777.4(MKS1):c.1210C>T (p.Leu404=)
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn) rs372554696
NM_017777.4(MKS1):c.1224G>A (p.Gln408=) rs1216137211
NM_017777.4(MKS1):c.1245T>C (p.Tyr415=) rs1968622013
NM_017777.4(MKS1):c.1254G>A (p.Val418=) rs2143750611
NM_017777.4(MKS1):c.1273+10C>T
NM_017777.4(MKS1):c.1273+13C>A
NM_017777.4(MKS1):c.1273+17G>A
NM_017777.4(MKS1):c.1273+17del rs2143750048
NM_017777.4(MKS1):c.1273+18C>A
NM_017777.4(MKS1):c.1273+7G>T rs569463908
NM_017777.4(MKS1):c.1274-10C>G rs751088795
NM_017777.4(MKS1):c.1274-13T>A
NM_017777.4(MKS1):c.1274-14C>T
NM_017777.4(MKS1):c.1274-16C>T
NM_017777.4(MKS1):c.1274-18T>C
NM_017777.4(MKS1):c.1274-4G>T rs377033778
NM_017777.4(MKS1):c.1274-7T>C
NM_017777.4(MKS1):c.1274-9dup
NM_017777.4(MKS1):c.1281C>T (p.His427=) rs2143744776
NM_017777.4(MKS1):c.1284C>G (p.Thr428=)
NM_017777.4(MKS1):c.1299G>T (p.Thr433=) rs749503564
NM_017777.4(MKS1):c.1305A>G (p.Arg435=) rs1007814770
NM_017777.4(MKS1):c.1323G>A (p.Thr441=) rs781038098
NM_017777.4(MKS1):c.1323G>C (p.Thr441=)
NM_017777.4(MKS1):c.1326G>A (p.Val442=) rs569499621
NM_017777.4(MKS1):c.1341G>A (p.Arg447=) rs1294257326
NM_017777.4(MKS1):c.1353C>A (p.Gly451=) rs764549118
NM_017777.4(MKS1):c.1353C>G (p.Gly451=)
NM_017777.4(MKS1):c.135C>G (p.Ala45=)
NM_017777.4(MKS1):c.135C>T (p.Ala45=)
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1407+10G>A
NM_017777.4(MKS1):c.1407+19G>A
NM_017777.4(MKS1):c.1407+20_1407+25del
NM_017777.4(MKS1):c.1407+9T>A rs2143742823
NM_017777.4(MKS1):c.1408-13T>C rs2143738734
NM_017777.4(MKS1):c.1408-18C>A rs2143738791
NM_017777.4(MKS1):c.1408-20G>C
NM_017777.4(MKS1):c.1408-21T>G
NM_017777.4(MKS1):c.1408-23G>A
NM_017777.4(MKS1):c.1408-29C>T rs2143738957
NM_017777.4(MKS1):c.1408-35C>T rs2143738994
NM_017777.4(MKS1):c.1408-9A>G
NM_017777.4(MKS1):c.1410G>A (p.Gly470=) rs2143738492
NM_017777.4(MKS1):c.1413A>G (p.Glu471=) rs1597975817
NM_017777.4(MKS1):c.1416C>G (p.Arg472=)
NM_017777.4(MKS1):c.141C>A (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.141C>T (p.Leu47=) rs1598006779
NM_017777.4(MKS1):c.1422C>T (p.Ser474=) rs1597975737
NM_017777.4(MKS1):c.1425C>A (p.Arg475=) rs2143738206
NM_017777.4(MKS1):c.1434C>T (p.Leu478=) rs1463944569
NM_017777.4(MKS1):c.1446C>T (p.Thr482=) rs2143737944
NM_017777.4(MKS1):c.1449A>G (p.Thr483=) rs2143737889
NM_017777.4(MKS1):c.144G>C (p.Gly48=) rs2143838897
NM_017777.4(MKS1):c.1458C>T (p.Val486=)
NM_017777.4(MKS1):c.1470G>A (p.Leu490=) rs1968517645
NM_017777.4(MKS1):c.1476T>C (p.Cys492=)
NM_017777.4(MKS1):c.147G>A (p.Lys49=) rs2143838854
NM_017777.4(MKS1):c.1490+15C>A
NM_017777.4(MKS1):c.1490+17T>A
NM_017777.4(MKS1):c.1490+18C>G
NM_017777.4(MKS1):c.1490+8A>T
NM_017777.4(MKS1):c.1490+9C>T rs1555596804
NM_017777.4(MKS1):c.1491-10C>T
NM_017777.4(MKS1):c.1491-13G>A rs2143736475
NM_017777.4(MKS1):c.1491-15C>G
NM_017777.4(MKS1):c.1491-17G>T
NM_017777.4(MKS1):c.1491-20T>C
NM_017777.4(MKS1):c.1491-4G>A rs1555596758
NM_017777.4(MKS1):c.1491-4G>T rs1555596758
NM_017777.4(MKS1):c.1491-7C>T
NM_017777.4(MKS1):c.1491-8C>A
NM_017777.4(MKS1):c.1497C>T (p.Phe499=)
NM_017777.4(MKS1):c.1515T>A (p.Leu505=)
NM_017777.4(MKS1):c.1528C>A (p.Arg510=)
NM_017777.4(MKS1):c.1530G>A (p.Arg510=)
NM_017777.4(MKS1):c.1557C>T (p.Phe519=) rs1433060710
NM_017777.4(MKS1):c.1560C>T (p.Ser520=) rs2143735433
NM_017777.4(MKS1):c.1575T>A (p.Ile525=)
NM_017777.4(MKS1):c.1578C>T (p.His526=)
NM_017777.4(MKS1):c.1588+12C>G rs762501967
NM_017777.4(MKS1):c.1588+15C>G
NM_017777.4(MKS1):c.1588+16C>A
NM_017777.4(MKS1):c.1588+16C>G
NM_017777.4(MKS1):c.1588+20T>C rs2143734918
NM_017777.4(MKS1):c.1588+7C>A
NM_017777.4(MKS1):c.1588+7C>T
NM_017777.4(MKS1):c.1589-10T>A rs2143734265
NM_017777.4(MKS1):c.1589-11T>C
NM_017777.4(MKS1):c.1589-15C>G
NM_017777.4(MKS1):c.1589-19A>G
NM_017777.4(MKS1):c.1589-19A>T
NM_017777.4(MKS1):c.1590G>A (p.Glu530=)
NM_017777.4(MKS1):c.159C>T (p.Asp53=) rs907068935
NM_017777.4(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.4(MKS1):c.1605C>T (p.Ala535=) rs35493987
NM_017777.4(MKS1):c.1608G>A (p.Arg536=) rs2143733718
NM_017777.4(MKS1):c.165C>A (p.Ala55=)
NM_017777.4(MKS1):c.1671G>A (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1671G>T (p.Leu557=) rs11548967
NM_017777.4(MKS1):c.1677C>T (p.Ser559=) rs921675582
NM_017777.4(MKS1):c.177T>G (p.Pro59=) rs2143838526
NM_017777.4(MKS1):c.190+11C>G
NM_017777.4(MKS1):c.190+11C>T rs529293609
NM_017777.4(MKS1):c.190+15G>T
NM_017777.4(MKS1):c.190+20T>C
NM_017777.4(MKS1):c.190+8dup rs766767996
NM_017777.4(MKS1):c.191-10G>T rs756533204
NM_017777.4(MKS1):c.191-17C>T
NM_017777.4(MKS1):c.191-19C>G
NM_017777.4(MKS1):c.191-9T>C rs2143823943
NM_017777.4(MKS1):c.201C>G (p.Arg67=) rs2143823724
NM_017777.4(MKS1):c.204A>G (p.Pro68=)
NM_017777.4(MKS1):c.207G>A (p.Glu69=) rs1969242335
NM_017777.4(MKS1):c.213C>T (p.Asp71=) rs142813109
NM_017777.4(MKS1):c.219G>A (p.Glu73=)
NM_017777.4(MKS1):c.222G>A (p.Glu74=)
NM_017777.4(MKS1):c.225G>A (p.Glu75=) rs775351056
NM_017777.4(MKS1):c.237G>A (p.Gly79=) rs2143823165
NM_017777.4(MKS1):c.252C>T (p.Leu84=) rs969699321
NM_017777.4(MKS1):c.261+10T>C rs781466261
NM_017777.4(MKS1):c.261+10T>G rs781466261
NM_017777.4(MKS1):c.261+15C>G
NM_017777.4(MKS1):c.261+16_261+17del
NM_017777.4(MKS1):c.262-10G>A rs772852025
NM_017777.4(MKS1):c.262-10G>C
NM_017777.4(MKS1):c.262-12T>C
NM_017777.4(MKS1):c.262-13A>G
NM_017777.4(MKS1):c.262-16C>T
NM_017777.4(MKS1):c.262-19T>C
NM_017777.4(MKS1):c.262-7_262-6del rs2143820463
NM_017777.4(MKS1):c.276G>A (p.Leu92=)
NM_017777.4(MKS1):c.282A>G (p.Gln94=)
NM_017777.4(MKS1):c.285T>C (p.Asn95=)
NM_017777.4(MKS1):c.291A>G (p.Thr97=) rs1597999676
NM_017777.4(MKS1):c.318G>A (p.Gln106=)
NM_017777.4(MKS1):c.324T>C (p.Arg108=) rs1007384458
NM_017777.4(MKS1):c.351G>C (p.Ser117=) rs370781583
NM_017777.4(MKS1):c.354T>G (p.Gly118=) rs1969193189
NM_017777.4(MKS1):c.369A>G (p.Arg123=) rs997559994
NM_017777.4(MKS1):c.381C>G (p.Thr127=)
NM_017777.4(MKS1):c.390C>T (p.Asp130=)
NM_017777.4(MKS1):c.405C>A (p.Thr135=)
NM_017777.4(MKS1):c.411G>A (p.Leu137=)
NM_017777.4(MKS1):c.417+10T>C rs780977789
NM_017777.4(MKS1):c.417+13C>T
NM_017777.4(MKS1):c.417+15A>G
NM_017777.4(MKS1):c.418-4C>G rs2143809915
NM_017777.4(MKS1):c.427A>C (p.Arg143=)
NM_017777.4(MKS1):c.438T>C (p.Thr146=)
NM_017777.4(MKS1):c.453G>A (p.Val151=)
NM_017777.4(MKS1):c.468C>G (p.Val156=) rs199684837
NM_017777.4(MKS1):c.483T>C (p.Asn161=) rs1472188901
NM_017777.4(MKS1):c.492T>A (p.Arg164=) rs2143808753
NM_017777.4(MKS1):c.498G>A (p.Arg166=) rs778956664
NM_017777.4(MKS1):c.513G>C (p.Gly171=) rs2143808375
NM_017777.4(MKS1):c.515+13A>G
NM_017777.4(MKS1):c.515+13A>T
NM_017777.4(MKS1):c.515+15G>T
NM_017777.4(MKS1):c.515+19T>C
NM_017777.4(MKS1):c.515+9G>C rs752279060
NM_017777.4(MKS1):c.515+9G>T
NM_017777.4(MKS1):c.516-5C>A
NM_017777.4(MKS1):c.516-9G>A rs1969068781
NM_017777.4(MKS1):c.519G>A (p.Glu173=) rs901476301
NM_017777.4(MKS1):c.522C>A (p.Gly174=)
NM_017777.4(MKS1):c.528C>T (p.Ile176=) rs2143805374
NM_017777.4(MKS1):c.546C>T (p.Val182=) rs1969065058
NM_017777.4(MKS1):c.555G>A (p.Glu185=) rs2143804915
NM_017777.4(MKS1):c.564A>G (p.Glu188=) rs2143804818
NM_017777.4(MKS1):c.567G>A (p.Glu189=)
NM_017777.4(MKS1):c.573C>G (p.Val191=) rs1247479841
NM_017777.4(MKS1):c.582C>T (p.Asn194=) rs940590057
NM_017777.4(MKS1):c.600T>G (p.Pro200=)
NM_017777.4(MKS1):c.618C>A (p.Ile206=)
NM_017777.4(MKS1):c.624A>G (p.Ala208=)
NM_017777.4(MKS1):c.644+15T>A rs2143803705
NM_017777.4(MKS1):c.644+18C>T
NM_017777.4(MKS1):c.645-12_645-10del rs2143800934
NM_017777.4(MKS1):c.645-7T>C
NM_017777.4(MKS1):c.657G>A (p.Lys219=)
NM_017777.4(MKS1):c.663T>C (p.Tyr221=) rs1597993685
NM_017777.4(MKS1):c.675G>A (p.Leu225=) rs1969025949
NM_017777.4(MKS1):c.693T>C (p.Asp231=) rs777474025
NM_017777.4(MKS1):c.705G>T (p.Val235=)
NM_017777.4(MKS1):c.726C>T (p.Phe242=)
NM_017777.4(MKS1):c.729G>C (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.729G>T (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.741A>C (p.Gly247=)
NM_017777.4(MKS1):c.744C>T (p.Pro248=)
NM_017777.4(MKS1):c.749+11G>A
NM_017777.4(MKS1):c.749+14G>T
NM_017777.4(MKS1):c.749+18G>C
NM_017777.4(MKS1):c.749+20G>T
NM_017777.4(MKS1):c.749+9A>C rs2143799781
NM_017777.4(MKS1):c.750-14T>C
NM_017777.4(MKS1):c.750-15G>C
NM_017777.4(MKS1):c.750-18G>A
NM_017777.4(MKS1):c.750-5T>C
NM_017777.4(MKS1):c.750-7C>T rs2143795530
NM_017777.4(MKS1):c.750-8C>A rs1323177668
NM_017777.4(MKS1):c.750-9A>C rs2143795587
NM_017777.4(MKS1):c.756G>A (p.Glu252=)
NM_017777.4(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.4(MKS1):c.789T>C (p.Tyr263=) rs1968972848
NM_017777.4(MKS1):c.792G>T (p.Thr264=) rs1272905094
NM_017777.4(MKS1):c.795C>T (p.Ile265=) rs750597104
NM_017777.4(MKS1):c.798C>T (p.Asp266=) rs1968971741
NM_017777.4(MKS1):c.801T>C (p.Asn267=) rs753798549
NM_017777.4(MKS1):c.804T>C (p.Val268=) rs764069453
NM_017777.4(MKS1):c.81-11T>C
NM_017777.4(MKS1):c.81-13C>T
NM_017777.4(MKS1):c.81-14G>A
NM_017777.4(MKS1):c.81-14del
NM_017777.4(MKS1):c.81-5G>T rs1969411105
NM_017777.4(MKS1):c.81-9T>C
NM_017777.4(MKS1):c.825G>A (p.Glu275=) rs921504865
NM_017777.4(MKS1):c.831G>A (p.Glu277=) rs2143793926
NM_017777.4(MKS1):c.840A>G (p.Glu280=) rs1406421081
NM_017777.4(MKS1):c.843G>T (p.Arg281=)
NM_017777.4(MKS1):c.84C>T (p.Val28=)
NM_017777.4(MKS1):c.858+17T>G
NM_017777.4(MKS1):c.858+7G>C rs918270665
NM_017777.4(MKS1):c.858+7G>T rs918270665
NM_017777.4(MKS1):c.858+9A>T
NM_017777.4(MKS1):c.859-19GTTTG[3]
NM_017777.4(MKS1):c.859-5C>T
NM_017777.4(MKS1):c.870G>T (p.Arg290=) rs769489826
NM_017777.4(MKS1):c.876G>A (p.Lys292=)
NM_017777.4(MKS1):c.882T>C (p.Tyr294=)
NM_017777.4(MKS1):c.900C>T (p.Gly300=)
NM_017777.4(MKS1):c.915+19T>C
NM_017777.4(MKS1):c.915+20G>A
NM_017777.4(MKS1):c.915+8G>T
NM_017777.4(MKS1):c.916-16C>T
NM_017777.4(MKS1):c.916-20C>T
NM_017777.4(MKS1):c.916-6C>T rs765028851
NM_017777.4(MKS1):c.916-7A>C rs2143778235
NM_017777.4(MKS1):c.918T>A (p.Thr306=)
NM_017777.4(MKS1):c.918T>G (p.Thr306=)
NM_017777.4(MKS1):c.921C>G (p.Val307=)
NM_017777.4(MKS1):c.948T>C (p.Asn316=)
NM_017777.4(MKS1):c.958+13C>G
NM_017777.4(MKS1):c.958+14T>C
NM_017777.4(MKS1):c.958+18A>G
NM_017777.4(MKS1):c.958+7G>T
NM_017777.4(MKS1):c.958+8T>A
NM_017777.4(MKS1):c.959-10TC[2]
NM_017777.4(MKS1):c.959-16del
NM_017777.4(MKS1):c.959-20C>T
NM_017777.4(MKS1):c.959-7C>G
NM_017777.4(MKS1):c.959-8T>C rs763444295
NM_017777.4(MKS1):c.959-9C>A rs538316917
NM_017777.4(MKS1):c.959-9C>G rs538316917
NM_017777.4(MKS1):c.981T>C (p.Tyr327=)

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