ClinVar Miner

List of variants reported as benign for polydactyly-syndactyly-triphalangism by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 498
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_030578.4(B9D2):c.-5+107G>A rs2241712 0.71256
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NC_000019.10:g.41354391A>G rs1800469 0.69508
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405 0.07173
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404 0.07043
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_153704.6(TMEM67):c.1518+18T>C rs73694953 0.01972
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927 0.01924
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_198525.3(KIF7):c.3665-18C>T rs78862745 0.01841
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349 0.01517
NM_015681.6(B9D1):c.580T>C (p.Leu194=) rs7212549 0.01478
NM_024809.5(TCTN2):c.1612+12C>T rs117614122 0.01410
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_030578.4(B9D2):c.215-16C>G rs3087453 0.01363
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_000168.6(GLI3):c.1029-7C>T rs78280303 0.01279
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp) rs73980038 0.01073
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809 0.00887
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_001378615.1(CC2D2A):c.541-20T>G rs114335547 0.00669
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849 0.00465
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251 0.00424
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_002334.4(LRP4):c.2151C>T (p.Gly717=) rs114920029 0.00361
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_002334.4(LRP4):c.2506+18G>A rs148998354 0.00327
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys) rs150253578 0.00314
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_015681.6(B9D1):c.237C>G (p.Pro79=) rs149051059 0.00295
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631 0.00261
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00233
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950 0.00229
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_024809.5(TCTN2):c.-2G>A rs141768405 0.00224
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_024809.5(TCTN2):c.1985-12A>G rs78123598 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_001378615.1(CC2D2A):c.2487-11C>G rs374783761 0.00168
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647 0.00165
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_030578.4(B9D2):c.183C>T (p.Ile61=) rs140901774 0.00155
NM_198525.3(KIF7):c.2718+19C>T rs200126841 0.00152
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=) rs144929293 0.00121
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_000168.6(GLI3):c.1813-15T>C rs201019815 0.00118
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_198525.3(KIF7):c.2718+20G>A rs183149392 0.00108
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_002334.4(LRP4):c.4951+10A>G rs371455422 0.00093
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_153704.6(TMEM67):c.714+18A>T rs140881754 0.00086
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000168.6(GLI3):c.1386G>A (p.Lys462=) rs150161845 0.00080
NM_001378615.1(CC2D2A):c.1017+7G>A rs137919504 0.00080
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00080
NM_001082538.3(TCTN1):c.341+11G>A rs188296885 0.00079
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_002334.4(LRP4):c.141C>G (p.Ala47=) rs543418199 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
NM_017777.4(MKS1):c.749+13A>G rs199550514 0.00072
NM_153704.6(TMEM67):c.2241+15A>G rs201043898 0.00072
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_017777.4(MKS1):c.1024+13C>G rs374632643 0.00065
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_025114.4(CEP290):c.3574-3C>G rs781450470 0.00062
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_002334.4(LRP4):c.570C>T (p.Pro190=) rs147353838 0.00061
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496 0.00051
NM_024809.5(TCTN2):c.1100-17T>C rs538341461 0.00049
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033 0.00046
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000168.6(GLI3):c.3889C>T (p.Leu1297=) rs145618226 0.00037
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_025114.4(CEP290):c.5226+19T>C rs547955106 0.00031
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu) rs199931630 0.00027
NM_000168.6(GLI3):c.1242+8G>A rs75925934 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp) rs147191956 0.00026
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_001378615.1(CC2D2A):c.2259C>T (p.Val753=) rs538922641 0.00023
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620 0.00019
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_198525.3(KIF7):c.3964T>C (p.Ser1322Pro) rs200891085 0.00016
NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly) rs143942705 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317 0.00014
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_015681.6(B9D1):c.245-19C>A rs774504181 0.00012
NM_024809.5(TCTN2):c.565-18T>G rs368179378 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_015681.6(B9D1):c.516C>T (p.Asn172=) rs149758860 0.00011
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.3893C>T (p.Pro1298Leu) rs182571462 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_002334.4(LRP4):c.2092+17C>T rs200761003 0.00009
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615 0.00008
NM_001082538.3(TCTN1):c.1636-18T>G rs574360617 0.00007
NM_015681.6(B9D1):c.597C>G (p.Pro199=) rs753785719 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00007
NM_000168.6(GLI3):c.1992G>A (p.Ser664=) rs770030848 0.00006
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832 0.00006
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) rs371899538 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_198525.3(KIF7):c.530-7C>T rs202043641 0.00006
NM_000168.6(GLI3):c.1365C>T (p.Pro455=) rs544431683 0.00005
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser) rs377579354 0.00004
NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu) rs139672999 0.00004
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg) rs543636524 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727 0.00003
NM_000168.6(GLI3):c.294G>A (p.Ala98=) rs758453658 0.00003
NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys) rs577664817 0.00003
NM_000168.6(GLI3):c.783C>T (p.Ala261=) rs748769754 0.00003
NM_000168.6(GLI3):c.789G>A (p.Thr263=) rs199918341 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu) rs370794111 0.00001
NM_000168.6(GLI3):c.1184G>A (p.Gly395Glu) rs1345463284 0.00001
NM_000168.6(GLI3):c.1464G>A (p.Ala488=) rs777294193 0.00001
NM_000168.6(GLI3):c.2432-16C>T rs761302001 0.00001
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) rs370714837 0.00001
NM_000168.6(GLI3):c.3756G>A (p.Pro1252=) rs758155716 0.00001
NM_000168.6(GLI3):c.4636C>T (p.Pro1546Ser) rs1173657852 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp) rs537925312 0.00001
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=) rs532450170 0.00001
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1254G>A (p.Thr418=)
NM_000168.6(GLI3):c.1317C>T (p.Pro439=)
NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro) rs745809543
NM_000168.6(GLI3):c.1461C>T (p.Cys487=)
NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)
NM_000168.6(GLI3):c.1497C>G (p.His499Gln) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1530G>A (p.Lys510=)
NM_000168.6(GLI3):c.1539C>T (p.Phe513=)
NM_000168.6(GLI3):c.1623G>A (p.Thr541=)
NM_000168.6(GLI3):c.1626C>T (p.Gly542=)
NM_000168.6(GLI3):c.1629G>A (p.Glu543=)
NM_000168.6(GLI3):c.1647+16G>C
NM_000168.6(GLI3):c.1674G>A (p.Ser558=)
NM_000168.6(GLI3):c.1818A>G (p.Pro606=)
NM_000168.6(GLI3):c.186A>G (p.Pro62=) rs1452738609
NM_000168.6(GLI3):c.1902A>T (p.Pro634=)
NM_000168.6(GLI3):c.1911T>C (p.His637=) rs886038265
NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu)
NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)
NM_000168.6(GLI3):c.2082C>T (p.Thr694=)
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.2163C>T (p.Ser721=)
NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser) rs1355649064
NM_000168.6(GLI3):c.2331C>T (p.His777=) rs1057524835
NM_000168.6(GLI3):c.2550C>T (p.Ser850=)
NM_000168.6(GLI3):c.2772C>G (p.Ala924=)
NM_000168.6(GLI3):c.2784C>T (p.Arg928=)
NM_000168.6(GLI3):c.2803G>A (p.Ala935Thr)
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2826G>T (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2961C>T (p.Tyr987=)
NM_000168.6(GLI3):c.2970C>T (p.Arg990=)
NM_000168.6(GLI3):c.2974C>G (p.Leu992Val)
NM_000168.6(GLI3):c.2993C>G (p.Pro998Arg)
NM_000168.6(GLI3):c.3000C>T (p.His1000=)
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.3102G>T (p.Ala1034=)
NM_000168.6(GLI3):c.3109A>G (p.Thr1037Ala)
NM_000168.6(GLI3):c.3114C>T (p.Ser1038=)
NM_000168.6(GLI3):c.3318A>C (p.Ala1106=)
NM_000168.6(GLI3):c.3372C>T (p.His1124=) rs542238121
NM_000168.6(GLI3):c.3396C>T (p.Pro1132=)
NM_000168.6(GLI3):c.3411C>A (p.Ser1137Arg)
NM_000168.6(GLI3):c.3514C>T (p.Leu1172=)
NM_000168.6(GLI3):c.3539G>C (p.Gly1180Ala)
NM_000168.6(GLI3):c.3611C>T (p.Pro1204Leu)
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) rs369440387
NM_000168.6(GLI3):c.3765G>A (p.Gly1255=)
NM_000168.6(GLI3):c.3957A>G (p.Gly1319=)
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4220G>A (p.Gly1407Glu)
NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)
NM_000168.6(GLI3):c.4710G>A (p.Ala1570=)
NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)
NM_000168.6(GLI3):c.618C>T (p.Ser206=)
NM_000168.6(GLI3):c.827-19dup rs200073401
NM_001082538.3(TCTN1):c.1636-18TC[2] rs201913681
NM_001082538.3(TCTN1):c.221-7dup rs768471137
NM_001082538.3(TCTN1):c.473-10del rs771463400
NM_001082538.3(TCTN1):c.473-10dup rs771463400
NM_001082538.3(TCTN1):c.473-4dup
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001378615.1(CC2D2A):c.1607+12del
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.248-16del
NM_001378615.1(CC2D2A):c.2922+10dup rs752271495
NM_001378615.1(CC2D2A):c.4066-12del rs752759735
NM_001378615.1(CC2D2A):c.439-13del
NM_001378615.1(CC2D2A):c.4675-9del
NM_001378615.1(CC2D2A):c.4675-9dup
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_002334.4(LRP4):c.2093-15dup rs375880498
NM_002334.4(LRP4):c.2814+13_2814+35del
NM_002334.4(LRP4):c.2918G>T (p.Arg973Leu)
NM_002334.4(LRP4):c.3004+18C>A rs2306028
NM_002334.4(LRP4):c.3536+16A>T
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) rs550931351
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_015272.5(RPGRIP1L):c.1029+19del
NM_015272.5(RPGRIP1L):c.1104-5dup rs2151199111
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=) rs569208946
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.230+13dup
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3221-7dup
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3432+10dup
NM_015272.5(RPGRIP1L):c.3433-20dup
NM_015272.5(RPGRIP1L):c.3617-13del
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.530-3del rs1567882035
NM_015272.5(RPGRIP1L):c.632+16del rs559978421
NM_015272.5(RPGRIP1L):c.883-10dup
NM_015681.6(B9D1):c.63+19dup rs2152278724
NM_017777.4(MKS1):c.1096-5del rs2143753890
NM_017777.4(MKS1):c.1588+10del
NM_017777.4(MKS1):c.645-13del
NM_017777.4(MKS1):c.915+19_915+21del rs3217067
NM_024809.5(TCTN2):c.1506-17G>A
NM_025114.4(CEP290):c.181-10del rs1302625844
NM_025114.4(CEP290):c.181-10dup
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2052+15dup
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2218-5del rs143621850
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-3dup
NM_025114.4(CEP290):c.2484-9del rs1189055838
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.3574-10_3574-9del
NM_025114.4(CEP290):c.3574-16dup rs10717563
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4195-3del
NM_025114.4(CEP290):c.4195-3dup
NM_025114.4(CEP290):c.441+17_441+18del
NM_025114.4(CEP290):c.441+18del
NM_025114.4(CEP290):c.441+18dup
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.495+8dup
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5364+14C>T
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6522+11_6522+12del
NM_025114.4(CEP290):c.6522+11_6522+12dup
NM_025114.4(CEP290):c.6522+12del
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6523-12dup rs1216267478
NM_025114.4(CEP290):c.6523-6del
NM_025114.4(CEP290):c.669+6del rs761225874
NM_025114.4(CEP290):c.670-3dup
NM_025114.4(CEP290):c.6819-15del
NM_025114.4(CEP290):c.6819-15dup
NM_025114.4(CEP290):c.7129+18dup
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.942+11del
NM_025114.4(CEP290):c.942+4dup rs558914208
NM_153704.6(TMEM67):c.1960+17dup rs1475466139
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2765-6dup
NM_153704.6(TMEM67):c.313-13del rs367575555
NM_153704.6(TMEM67):c.651+22del
NM_153704.6(TMEM67):c.651+22dup
NM_153704.6(TMEM67):c.869+20T>C
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1789-7C>T rs544015325
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2592+11C>A rs78199895
NM_198525.3(KIF7):c.2592+11C>T rs78199895
NM_198525.3(KIF7):c.2896-3del
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_198525.3(KIF7):c.923+13dup

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