ClinVar Miner

List of variants studied for autosomal recessive disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 280
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_001366722.1(GRIP1):c.2464+15T>C rs7970076 0.97982
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722 0.97162
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848 0.96433
NM_025074.7(FRAS1):c.7371+11T>C rs7664505 0.95846
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_025074.7(FRAS1):c.604-8G>A rs2867014 0.93589
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514 0.79008
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_016239.4(MYO15A):c.5826-12A>C rs854778 0.76256
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745 0.68524
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_001366722.1(GRIP1):c.724+10G>A rs12316942 0.67684
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752 0.67410
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_004700.4(KCNQ4):c.708+14G>C rs2361660 0.66283
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) rs931606 0.51866
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644 0.51720
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241 0.51337
NM_025074.7(FRAS1):c.9116-11T>C rs7677541 0.51261
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_025074.7(FRAS1):c.9116-5C>G rs7695038 0.50468
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) rs4859905 0.50277
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_001366722.1(GRIP1):c.1838+13G>T rs7397862 0.49975
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) rs4975070 0.42060
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) rs4975139 0.42041
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) rs2955366 0.41355
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011 0.41204
NM_176824.3(BBS7):c.1890+16G>A rs1507994 0.40768
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.34123
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) rs11098194 0.32564
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) rs6851427 0.32517
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) rs12504081 0.31848
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) rs3749488 0.31772
NM_025074.7(FRAS1):c.5366+13T>G rs2170899 0.31001
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_025074.7(FRAS1):c.604-132G>A rs6856362 0.30120
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_005807.6(PRG4):c.538C>T (p.Arg180Trp) rs2273779 0.29059
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_005807.6(PRG4):c.3138A>G (p.Pro1046=) rs3737940 0.27761
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_001366722.1(GRIP1):c.503-15C>A rs11838180 0.27190
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_018109.4(MTPAP):c.555+19C>T rs1047988 0.25271
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_025074.7(FRAS1):c.108+2546T>C rs10008489 0.24570
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164 0.24213
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) rs34840208 0.22689
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.21660
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_002109.6(HARS1):c.1458+7G>A rs58302597 0.18812
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
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_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
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_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) rs35774552 0.06352
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_005807.6(PRG4):c.1737T>C (p.Thr579=) rs778925933 0.02340
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu) rs17459809 0.01892
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr) rs114077522 0.01873
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895 0.00967
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00195
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358 0.00074
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) rs200021943 0.00021
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_001080414.4(CCDC88C):c.1050+9C>T rs372411289 0.00015
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_001083961.2(WDR62):c.2972-15G>A rs1014003547 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000320.3(QDPR):c.423G>A (p.Leu141=) rs1553875093 0.00001
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn) rs4821700
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_002855.5(NECTIN1):c.1310AGG[9] (p.Glu444dup) rs137909701
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) rs345513
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137

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