ClinVar Miner

List of variants reported as uncertain significance for Meckel syndrome, type 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001009894.3(C12orf29):c.*827G>A rs754398792
NM_001009894.3(C12orf29):c.*837T>C rs765709669
NM_001009894.3(C12orf29):c.*926C>T rs200178519
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*45G>C rs372449768
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001080522.2(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) rs373296447
NM_001080522.2(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001080522.2(CC2D2A):c.1947G>A (p.Thr649=) rs756341605
NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2133G>C (p.Gln711His) rs886059139
NM_001080522.2(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001080522.2(CC2D2A):c.2486+8A>G rs749186859
NM_001080522.2(CC2D2A):c.2486+9T>C rs768382177
NM_001080522.2(CC2D2A):c.2526A>G (p.Thr842=) rs886059158
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216
NM_001080522.2(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001080522.2(CC2D2A):c.3398+13T>C rs886059183
NM_001080522.2(CC2D2A):c.3398+7A>G rs772784324
NM_001080522.2(CC2D2A):c.3399-15T>C rs181612746
NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4675-12T>G rs769761582
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) rs201986486
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001165927.1(MKS1):c.*322G>T rs185405908
NM_001165927.1(MKS1):c.*381A>G rs886053168
NM_001165927.1(MKS1):c.*469C>T rs386465709
NM_001165927.1(MKS1):c.1223T>C (p.Val408Ala) rs886053169
NM_001165927.1(MKS1):c.1292C>T (p.Thr431Met) rs367625961
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1468A>G (p.Met490Val) rs144635826
NM_001165927.1(MKS1):c.1476G>A (p.Ser492=) rs368535131
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.233T>C (p.Phe78Ser) rs886053170
NM_001165927.1(MKS1):c.461G>A (p.Arg154His) rs200149256
NM_001165927.1(MKS1):c.50+168T>C rs372127517
NM_001165927.1(MKS1):c.50+214C>G rs116514023
NM_001165927.1(MKS1):c.50+258C>T rs369488349
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.614+8G>T rs370117125
NM_001165927.1(MKS1):c.699G>T (p.Thr233=) rs373491923
NM_001165927.1(MKS1):c.72A>G (p.Thr24=) rs886053171
NM_001165927.1(MKS1):c.733G>T (p.Gly245Trp) rs201237547
NM_001165927.1(MKS1):c.783C>T (p.His261=) rs201961765
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680
NM_001173990.3(TMEM216):c.*107G>T rs535550368
NM_001173990.3(TMEM216):c.*21A>G rs111371929
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*335G>A rs886048414
NM_001173990.3(TMEM216):c.*372C>T rs565159932
NM_001173990.3(TMEM216):c.*444T>C rs116047887
NM_001173990.3(TMEM216):c.*93T>C rs746881860
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173991.2(TMEM216):c.-242C>T rs756981776
NM_001243473.2(B9D1):c.74C>G (p.Ser25Cys) rs529182605
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3617-21dup rs750499169
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647
NM_015681.5(B9D1):c.*47C>T rs200124070
NM_015681.5(B9D1):c.376T>A (p.Ser126Thr) rs201299216
NM_015681.5(B9D1):c.457G>A (p.Gly153Ser) rs372249324
NM_015681.5(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_015681.5(B9D1):c.90C>T (p.Cys30=) rs886052685
NM_016499.5(TMEM216):c.-288G>A rs557559653
NM_016499.5(TMEM216):c.-325A>C rs886048411
NM_016499.5(TMEM216):c.-332T>C rs183785901
NM_020785.2(CC2D2A):c.-212T>C rs886059135
NM_020785.2(CC2D2A):c.-32G>A rs183968785
NM_020785.2(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*258G>C rs540710300
NM_024809.5(TCTN2):c.*45G>A rs142969969
NM_024809.5(TCTN2):c.*587C>T rs548909798
NM_024809.5(TCTN2):c.-15C>T rs575728856
NM_024809.5(TCTN2):c.-55C>A rs78846567
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874
NM_024809.5(TCTN2):c.564+3A>C rs761089886
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_025114.3(CEP290):c.-118C>G rs886049887
NM_025114.3(CEP290):c.-147A>T rs753567406
NM_025114.3(CEP290):c.-208C>T rs551070690
NM_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.3(CEP290):c.-33G>T rs139415563
NM_025114.3(CEP290):c.-38G>C rs886049886
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.-96C>T rs528270888
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.3(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.3(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.3(CEP290):c.1623+10G>A rs377529198
NM_025114.3(CEP290):c.1623+10G>T rs377529198
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.3(CEP290):c.2217+3G>A rs765291878
NM_025114.3(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.3(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.3(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
NM_025114.3(CEP290):c.3309+3_3309+4dupTT rs886049881
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-15T>A rs565414938
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.3(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.3(CEP290):c.442-11delT rs199511358
NM_025114.3(CEP290):c.442-11dupT rs199511358
NM_025114.3(CEP290):c.442-12_442-11dupTT rs199511358
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
NM_025114.3(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5227-14delT rs747878752
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.3(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.3(CEP290):c.5587-8T>C rs886049878
NM_025114.3(CEP290):c.5709+12A>G rs371010287
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.7209+11_7209+14delATTA rs750259100
NM_025114.3(CEP290):c.7209+7T>G rs745813087
NM_025114.3(CEP290):c.942+6T>G rs886049884
NM_030578.4(B9D2):c.*153G>C rs886054454
NM_030578.4(B9D2):c.*200T>G rs886054453
NM_030578.4(B9D2):c.*38G>A rs768917784
NM_030578.4(B9D2):c.*68G>A rs886054455
NM_030578.4(B9D2):c.*87C>T rs4987025
NM_030578.4(B9D2):c.-124G>A rs370117663
NM_030578.4(B9D2):c.-127G>A rs143639901
NM_030578.4(B9D2):c.-142A>C rs886054458
NM_030578.4(B9D2):c.-172G>A rs531746901
NM_030578.4(B9D2):c.-175G>A rs886054459
NM_030578.4(B9D2):c.-191C>T rs886054460
NM_030578.4(B9D2):c.-4-13T>C rs199601180
NM_030578.4(B9D2):c.-5G>A rs548005473
NM_030578.4(B9D2):c.-80G>A rs116599193
NM_030578.4(B9D2):c.109T>C (p.Ser37Pro) rs886054457
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu) rs368393895
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680
NM_030578.4(B9D2):c.261C>T (p.Gly87=) rs778936312
NM_030578.4(B9D2):c.263G>A (p.Arg88His) rs748803301
NM_030578.4(B9D2):c.469G>C (p.Val157Leu) rs886054456
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583
NM_153240.4(NPHP3):c.-70C>T rs886058006
NM_153240.5(NPHP3):c.*1020T>C rs186828918
NM_153240.5(NPHP3):c.*1078T>G rs886057996
NM_153240.5(NPHP3):c.*1098C>T rs886057995
NM_153240.5(NPHP3):c.*1121A>G rs576904017
NM_153240.5(NPHP3):c.*1176G>A rs183658380
NM_153240.5(NPHP3):c.*1213T>C rs886057994
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*139T>G rs886058001
NM_153240.5(NPHP3):c.*231A>T rs753577987
NM_153240.5(NPHP3):c.*46A>G rs530016526
NM_153240.5(NPHP3):c.*519C>T rs3891704
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.*692C>T rs886057997
NM_153240.5(NPHP3):c.*759G>A rs116338839
NM_153240.5(NPHP3):c.*784C>T rs376015619
NM_153240.5(NPHP3):c.*815G>A rs141464909
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404
NM_153240.5(NPHP3):c.2571-12C>G rs886058003
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330
NM_153240.5(NPHP3):c.2884-4C>G rs185913426
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066
NM_153240.5(NPHP3):c.3570+4A>G rs374989123
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153704.5(TMEM67):c.*1434T>C rs886063178
NM_153704.5(TMEM67):c.*1653G>A rs544858713
NM_153704.5(TMEM67):c.*179T>C rs886063174
NM_153704.5(TMEM67):c.*218T>C rs886063175
NM_153704.5(TMEM67):c.*300G>A rs886063176
NM_153704.5(TMEM67):c.*852C>T rs114214029
NM_153704.5(TMEM67):c.*853G>A rs191740525
NM_153704.5(TMEM67):c.*941T>C rs112317911
NM_153704.5(TMEM67):c.*942G>A rs886063177
NM_153704.5(TMEM67):c.119_124CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.5(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.5(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.5(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.5(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330
NM_153704.5(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.2299G>A (p.Val767Ile) rs201949664
NM_153704.5(TMEM67):c.2448G>A (p.Leu816=) rs886038738
NM_153704.5(TMEM67):c.2556+4T>G rs772449181
NM_153704.5(TMEM67):c.2556+5G>C rs886063172
NM_153704.5(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.5(TMEM67):c.2924G>A (p.Arg975His) rs191759530
NM_153704.5(TMEM67):c.2928T>C (p.Asn976=) rs369812327
NM_153704.5(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173
NM_153704.5(TMEM67):c.29C>T (p.Ala10Val) rs146838062
NM_153704.5(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.5(TMEM67):c.869+9A>G rs372597584

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