ClinVar Miner

List of variants reported as benign for autosomal recessive disease by Natera, Inc.

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1155
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814 0.87820
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_138694.4(PKHD1):c.5909-46A>G rs1266889 0.70194
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_000243.3(MEFV):c.1428A>G (p.Gln476=) rs224207 0.58038
NM_000260.4(MYO7A):c.3109-68G>A rs2276287 0.57823
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_000492.4(CFTR):c.1680-870T>A rs213965 0.55332
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161 0.54502
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_138694.4(PKHD1):c.3629-32A>G rs2499480 0.46280
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_138694.4(PKHD1):c.2407+50C>T rs10948667 0.41035
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782 0.40522
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838 0.40153
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486 0.39967
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972 0.39950
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837 0.39736
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_138694.4(PKHD1):c.7733+33C>T rs9382044 0.39361
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162 0.38498
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836 0.38173
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462 0.37260
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_138694.4(PKHD1):c.8441-32G>C rs3920621 0.33143
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_138694.4(PKHD1):c.9998+49A>G rs2397060 0.32325
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val) rs1377016 0.30620
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776 0.30410
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg) rs667782 0.26652
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) rs3110234 0.17829
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918 0.17658
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_138694.4(PKHD1):c.11786-30C>T rs9395699 0.14058
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493 0.13826
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192 0.13807
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700 0.13432
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116 0.13007
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_000492.4(CFTR):c.3140-92T>C rs4148717 0.12640
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498 0.11527
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.10108
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371 0.09713
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384140.1(PCDH15):c.157+3A>G rs41274636 0.09581
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427 0.07727
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_152618.3(BBS12):c.51A>G (p.Gln17=) rs17006077 0.06714
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001039958.2(MESP2):c.412G>A (p.Val138Met) rs28462216 0.06491
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360 0.06109
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_138694.4(PKHD1):c.8643-24A>G rs2766125 0.05514
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_138694.4(PKHD1):c.8174-49G>C rs12527920 0.05408
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) rs4129843 0.05402
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_138694.4(PKHD1):c.8173+37G>A rs12523900 0.05319
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_138694.4(PKHD1):c.8302+18A>G rs12529717 0.05228
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_001039958.2(MESP2):c.558G>A (p.Gln186=) rs28546919 0.05106
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His) rs74316327 0.04745
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_138694.4(PKHD1):c.11507-21A>G rs2174860 0.04499
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) rs3729734 0.03927
NM_000317.3(PTS):c.405T>C (p.Thr135=) rs59731976 0.03898
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_000070.3(CAPN3):c.1746-64C>T rs17764849 0.03691
NM_000492.4(CFTR):c.743+40A>G rs1800502 0.03675
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680 0.03656
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419 0.03652
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_000329.3(RPE65):c.246-46G>A rs3790471 0.03558
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) rs11120645 0.03545
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984 0.02971
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305 0.02887
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_000492.4(CFTR):c.3468+2109T>C rs213982 0.02368
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_000543.5(SMPD1):c.*74A>C rs1803160 0.02334
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061 0.02260
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744 0.02246
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114 0.02099
NM_138694.4(PKHD1):c.1694-32C>G rs12196276 0.02096
NM_001122769.3(LCA5):c.197G>A (p.Arg66Gln) rs35338066 0.02087
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_138694.4(PKHD1):c.1234-39C>G rs115660674 0.02051
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_000271.5(NPC1):c.1554-1021A>T rs73392141 0.02008
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_138694.4(PKHD1):c.8950+44A>G rs58823342 0.01939
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu) rs767539123 0.01904
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_000243.3(MEFV):c.-614C>G rs11466012 0.01850
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=) rs35098198 0.01843
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_138694.4(PKHD1):c.8108-16G>C rs73442356 0.01832
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519 0.01774
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052 0.01769
NM_206933.4(USH2A):c.8682-53A>G rs115882431 0.01767
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_001692.4(ATP6V1B1):c.*6C>A rs45498896 0.01715
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851 0.01669
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val) rs114956994 0.01512
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_153676.4(USH1C):c.2184+21T>G rs75810555 0.01371
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_000360.4(TH):c.645-74A>T rs73403741 0.01330
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693 0.01292
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397 0.01111
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01078
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01071
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806 0.01043
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.1515-25T>A rs111309167 0.01028
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_001017420.3(ESCO2):c.510G>A (p.Val170=) rs112031297 0.01021
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_000231.3(SGCG):c.435C>T (p.Asn145=) rs35628352 0.00973
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_138694.4(PKHD1):c.888A>T (p.Pro296=) rs76012218 0.00916
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_138694.4(PKHD1):c.7733+43G>A rs141811489 0.00897
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534 0.00885
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn) rs3729740 0.00852
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_138694.4(PKHD1):c.1603-28T>C rs73435705 0.00844
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_001134793.2(HYLS1):c.273G>T (p.Lys91Asn) rs78786765 0.00834
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly) rs61738567 0.00775
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854 0.00773
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269 0.00698
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707 0.00683
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000023.4(SGCA):c.*10C>G rs60300808 0.00619
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781 0.00558
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_022124.6(CDH23):c.894G>A (p.Leu298=) rs111033474 0.00549
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=) rs114974101 0.00548
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) rs61027880 0.00501
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868 0.00487
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) rs115015305 0.00441
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) rs115144373 0.00421
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_000271.5(NPC1):c.882-40T>A rs144469784 0.00420
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872 0.00393
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.3020-66T>C rs28385101 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_000070.3(CAPN3):c.1537-33G>A rs143412460 0.00363
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235 0.00352
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val) rs111667783 0.00348
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001039958.2(MESP2):c.717G>C (p.Gly239=) rs181559095 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NR_003051.3(RMRP):n.-3C>T rs138660393 0.00185
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_001134793.2(HYLS1):c.468A>G (p.Leu156=) rs138284572 0.00148
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=) rs147250093 0.00145
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_001134793.2(HYLS1):c.86A>C (p.His29Pro) rs200146258 0.00126
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser) rs35354504 0.00118
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001122769.3(LCA5):c.1579A>G (p.Ile527Val) rs75319738 0.00106
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039 0.00101
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser) rs548112443 0.00101
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_025216.3(WNT10A):c.591C>T (p.Ala197=) rs367808568 0.00078
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_152618.3(BBS12):c.1207G>A (p.Val403Met) rs78000298 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001127671.2(LIFR):c.3039G>C (p.Val1013=) rs754819659 0.00068
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu) rs143808825 0.00064
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_153676.4(USH1C):c.2134-11T>C rs200386499 0.00047
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722 0.00044
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437 0.00041
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000441.2(SLC26A4):c.2236-25T>A rs2301634 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_025216.3(WNT10A):c.234C>T (p.His78=) rs199802454 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_001384474.1(LOXHD1):c.1970+9G>A rs532438706 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00021
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021 0.00019
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs) rs1553396120 0.00018
NM_022124.6(CDH23):c.68-3C>T rs142456469 0.00018
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_001127671.2(LIFR):c.774T>C (p.Asp258=) rs761633332 0.00016
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001017420.3(ESCO2):c.1674-4T>C rs750703352 0.00014
NM_138694.4(PKHD1):c.812T>A (p.Leu271His) rs750887164 0.00014
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_000360.4(TH):c.91-828C>T rs764689284 0.00011
NM_001039958.2(MESP2):c.408G>T (p.Ser136=) rs760746152 0.00011
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) rs533227950 0.00007
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys) rs771198568 0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr) rs140895713 0.00006
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.432G>A (p.Pro144=) rs542176164 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_000231.3(SGCG):c.479T>C (p.Val160Ala) rs527562042 0.00002
NM_001017420.3(ESCO2):c.423G>C (p.Gln141His) rs147519828 0.00002
NM_001384474.1(LOXHD1):c.4886A>G (p.Tyr1629Cys) rs201536647 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00001
NM_000370.3(TTPA):c.471C>A (p.Ile157=) rs572263038 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.12298+5G>A rs371853987 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_022124.6(CDH23):c.2712G>A (p.Pro904=) rs570110527 0.00001
NM_024649.5(BBS1):c.433-5C>T rs542052064 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000232.5(SGCB):c.753+10_753+12del rs138604476
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG rs149931272
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3924+31_3924+46del rs759572835
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000271.5(NPC1):c.1554-1057G>C rs189881566
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000382.3(ALDH3A2):c.681-37_681-30del rs3034928
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.2090-59AAAC[3] rs112211967
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla) rs775568984
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9]) rs200021459
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=) rs756959656
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg) rs199786639
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_006019.4(TCIRG1):c.1887+175A>G rs2075609
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_024685.4(BBS10):c.1074G>A (p.Ser358=) rs551803123
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser) rs533605522
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_138694.4(PKHD1):c.11506+32dup rs376358912
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7486+41C>A rs982874
NM_138694.4(PKHD1):c.779-25dup rs5876252
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile) rs200300023
NM_153676.4(USH1C):c.2134-22dup rs397848183
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11549-5dup rs34565443
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.4252-15dup rs770949401
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.3(RMRP):n.-55A>G rs12551232
NR_003051.3(RMRP):n.-5G>A rs7024732
NR_003051.4(RMRP):n.54dup rs151011853

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