ClinVar Miner

List of variants reported by Richard Lifton Laboratory, Yale University School of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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HGVS dbSNP gnomAD frequency
NM_004120.5(GBP2):c.321T>G (p.Gly107=) rs386352304 0.00026
NM_014918.5(CHSY1):c.731G>A (p.Arg244Gln) rs386352292 0.00021
NM_032496.4(ARHGAP9):c.409C>T (p.Arg137Cys) rs3802989 0.00020
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_005235.3(ERBB4):c.2706C>T (p.Asp902=) rs146441207 0.00014
NM_001256538.2(C20orf141):c.265G>A (p.Ala89Thr) rs386352285 0.00013
NM_014637.4(MTFR1):c.244G>T (p.Val82Leu) rs386352331 0.00006
NM_001346231.2(RELCH):c.1735C>A (p.Gln579Lys) rs386352321 0.00004
NM_005060.4(RORC):c.422C>T (p.Ala141Val) rs201494136 0.00004
NM_014244.5(ADAMTS2):c.997G>A (p.Gly333Arg) rs483352736 0.00004
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755 0.00004
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00003
NM_000896.3(CYP4F3):c.824G>A (p.Arg275His) rs483352698 0.00002
NM_001042603.3(KDM5A):c.4522C>T (p.Arg1508Trp) rs367537993 0.00002
NM_002663.5(PLD2):c.1657C>T (p.Arg553Trp) rs386352350 0.00002
NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln) rs199469629 0.00002
NM_030912.3(TRIM8):c.1561G>T (p.Val521Phe) rs386352377 0.00002
NM_001039362.2(ATP6V1C2):c.847A>G (p.Lys283Glu) rs386352282 0.00001
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met) rs483352704 0.00001
NM_001257180.2(SLC20A2):c.353T>C (p.Ile118Thr) rs483352733 0.00001
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_002606.3(PDE9A):c.1085+1G>A rs386352388 0.00001
NM_003490.4(SYN3):c.1250C>T (p.Ala417Val) rs483352708 0.00001
NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp) rs483352725 0.00001
NM_005968.5(HNRNPM):c.2129G>A (p.Arg710Gln) rs483352729 0.00001
NM_007314.4(ABL2):c.2085A>G (p.Leu695=) rs386352273 0.00001
NM_015448.3(DPCD):c.11C>T (p.Thr4Met) rs386352299 0.00001
NM_016423.3(ZNF219):c.60C>T (p.Phe20=) rs386352384 0.00001
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) rs199469642 0.00001
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln) rs199469643 0.00001
NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys) rs199469645 0.00001
NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp) rs199469646 0.00001
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) rs199469638 0.00001
NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe) rs483352742 0.00001
NM_017588.3(WDR5):c.19A>C (p.Lys7Gln) rs367537994 0.00001
NM_017752.3(TBC1D8B):c.528T>C (p.Gly176=) rs483352744 0.00001
NM_018061.4(PRPF38B):c.1463G>A (p.Arg488Gln) rs386352353 0.00001
NM_018404.3(ADAP2):c.1105C>T (p.Arg369Trp) rs201148730 0.00001
NM_018898.5(PCDHAC1):c.2396G>A (p.Arg799Gln) rs386352346 0.00001
NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) rs786205050 0.00001
NM_031935.3(HMCN1):c.6295C>T (p.Arg2099Ter) rs483352758 0.00001
NM_032866.5(CGNL1):c.2322T>C (p.His774=) rs483352760 0.00001
NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser) rs483352764 0.00001
NM_052966.4(NIBAN1):c.2201C>T (p.Thr734Met) rs201876014 0.00001
NM_133448.3(TMEM132D):c.315G>T (p.Val105=) rs386352372 0.00001
NM_145861.4(EDARADD):c.587G>A (p.Arg196His) rs483352767 0.00001
NM_152281.3(GORAB):c.954G>C (p.Val318=) rs483352768 0.00001
NM_152879.3(DGKD):c.472G>A (p.Asp158Asn) rs386352297 0.00001
NM_000043.6(FAS):c.785T>C (p.Ile262Thr) rs483352683
NM_000053.4(ATP7B):c.2672G>C (p.Gly891Ala) rs483352684
NM_000274.4(OAT):c.293T>C (p.Val98Ala) rs483352687
NM_000289.6(PFKM):c.2137A>G (p.Met713Val) rs386352348
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg) rs483352689
NM_000345.4(SNCA):c.251G>T (p.Gly84Val) rs386352363
NM_000384.3(APOB):c.5562C>A (p.Asp1854Glu) rs386352278
NM_000392.5(ABCC2):c.2352A>G (p.Leu784=) rs483352691
NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) rs483352692
NM_000439.5(PCSK1):c.700A>G (p.Lys234Glu) rs483352693
NM_000466.3(PEX1):c.3645A>T (p.Glu1215Asp) rs483352694
NM_000489.6(ATRX):c.6631G>T (p.Glu2211Ter) rs386352283
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.6(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.6(TP53):c.887A>G (p.His296Arg) rs483352696
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000780.4(CYP7A1):c.907A>T (p.Arg303Trp) rs386352295
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000890.5(KCNJ5):c.451G>C (p.Gly151Arg) rs386352319
NM_000890.5(KCNJ5):c.503T>G (p.Leu168Arg) rs386352318
NM_001002002.3(GMPR2):c.812C>T (p.Ser271Phe) rs386352308
NM_001002800.3(SMC4):c.3849A>T (p.Ala1283=) rs386352362
NM_001003841.3(SLC6A19):c.1540T>G (p.Phe514Val) rs483352699
NM_001004317.4(LIN28B):c.5C>A (p.Ala2Asp) rs386352325
NM_001004476.2(OR10K2):c.157A>G (p.Arg53Gly) rs386352340
NM_001004706.1(OR4D11):c.575C>A (p.Thr192Asn) rs386352341
NM_001005211.2(OR9I1):c.218A>G (p.Tyr73Cys) rs386352342
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_001009613.4(SPANXN4):c.169A>G (p.Arg57Gly) rs483352701
NM_001033855.3(DCLRE1C):c.1342A>G (p.Asn448Asp) rs483352702
NM_001037132.4(NRCAM):c.3764T>G (p.Leu1255Arg) rs483352709
NM_001039592.2(SPAG8):c.618C>T (p.Asp206=) rs386352365
NM_001040202.2(PAQR3):c.650C>G (p.Pro217Arg) rs386352343
NM_001042472.3(ABHD12):c.935T>G (p.Phe312Cys) rs483352741
NM_001081550.2(THOC2):c.278T>C (p.Ile93Thr) rs483352705
NM_001082968.2(TOM1L2):c.144G>T (p.Lys48Asn) rs386352375
NM_001085377.2(MCC):c.2951T>C (p.Met984Thr) rs386352328
NM_001113226.3(NTNG1):c.689C>T (p.Ala230Val) rs386352339
NM_001128840.3(CACNA1D):c.1207G>C (p.Gly403Arg) rs386834263
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met) rs41276445
NM_001130682.3(GUCY1A1):c.69T>A (p.Gly23=) rs386352315
NM_001143992.2(WRAP53):c.1510T>C (p.Ser504Pro) rs483352746
NM_001146312.3(MYOCD):c.543C>T (p.Asp181=) rs368720240
NM_001199085.3(TDRD5):c.527T>C (p.Phe176Ser) rs386352369
NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala) rs587781260
NM_001199280.2(HAS3):c.141G>T (p.Leu47=) rs147999236
NM_001253852.3(AP4B1):c.165G>A (p.Lys55=) rs483352732
NM_001257967.3(ITPRID1):c.419G>A (p.Trp140Ter) rs386352287
NM_001270974.2(HYDIN):c.6449T>G (p.Val2150Gly) rs483352710
NM_001276345.2(TNNT2):c.245C>A (p.Pro82His) rs386352374
NM_001277075.3(ZNF541):c.1608G>A (p.Pro536=) rs386834267
NM_001277115.2(DNAH11):c.4072G>A (p.Val1358Ile) rs483352711
NM_001278.5(CHUK):c.1270C>G (p.Arg424Gly) rs483352712
NM_001286574.2(ARMC12):c.163+28C>T rs386352286
NM_001291867.2(NHS):c.1111G>T (p.Val371Phe) rs483352772
NM_001348022.3(ZNF606):c.2099G>C (p.Arg700Thr) rs386352385
NM_001353921.2(ARHGEF9):c.1066C>A (p.Leu356Ile) rs483352738
NM_001358235.2(DCHS2):c.2053-7021A>G rs386352296
NM_001363.5(DKC1):c.1147G>A (p.Gly383Ser) rs483352713
NM_001367823.1(ARHGEF18):c.1973C>A (p.Ala658Glu) rs142818148
NM_001370259.2(MEN1):c.1747T>G (p.Ser583Ala) rs483352685
NM_001375380.1(EBF3):c.534A>T (p.Ser178=) rs483352700
NM_001376571.1(MADD):c.3400G>A (p.Ala1134Thr) rs386352327
NM_001377530.1(DMBT1):c.1012T>C (p.Ser338Pro) rs483352734
NM_001378120.1(MBD5):c.904A>G (p.Thr302Ala) rs483352748
NM_001382347.1(MYO5A):c.2573G>T (p.Arg858Leu) rs483352686
NM_001384317.1(ZHX3):c.496G>T (p.Gly166Cys) rs386352383
NM_001384474.1(LOXHD1):c.2813G>A (p.Arg938Lys) rs386352326
NM_001457.4(FLNB):c.7455C>A (p.Thr2485=) rs483352714
NM_001486.4(GCKR):c.1368C>T (p.Ile456=) rs386352306
NM_001509.3(GPX5):c.28C>T (p.Leu10=) rs386352313
NM_001780.6(CD63):c.486G>A (p.Lys162=) rs483352715
NM_001883.5(CRHR2):c.915C>T (p.Tyr305=) rs386352294
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.723G>A (p.Val241=) rs483352717
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_002061.4(GCLM):c.748T>G (p.Tyr250Asp) rs386352307
NM_002067.5(GNA11):c.943G>A (p.Asp315Asn) rs386352309
NM_002087.4(GRN):c.1626C>T (p.Ala542=) rs386352314
NM_002293.4(LAMC1):c.814T>C (p.Ser272Pro) rs483352718
NM_002471.4(MYH6):c.5036G>T (p.Arg1679Leu) rs483352719
NM_002472.3(MYH8):c.398G>T (p.Trp133Leu) rs483352720
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_002637.4(PHKA1):c.79A>C (p.Asn27His) rs386352349
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002851.3(PTPRZ1):c.663G>T (p.Leu221=) rs483352722
NM_002852.4(PTX3):c.108T>C (p.Asn36=) rs386352354
NM_003011.4(SET):c.280G>C (p.Ala94Pro) rs483352707
NM_003153.5(STAT6):c.278T>G (p.Leu93Arg) rs483352723
NM_003258.5(TK1):c.596G>T (p.Gly199Val) rs386352371
NM_003274.5(TRAPPC10):c.2929A>G (p.Ser977Gly) rs386352376
NM_003337.4(UBE2B):c.23G>C (p.Arg8Thr) rs367537996
NM_003399.6(XPNPEP2):c.399G>A (p.Lys133=) rs386352381
NM_003403.5(YY1):c.1115C>G (p.Thr372Arg) rs386834266
NM_003408.3(ZFP37):c.19G>C (p.Val7Leu) rs202181932
NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_003571.4(BFSP2):c.861G>A (p.Arg287=) rs190627417
NM_003590.5(CUL3):c.1207-12T>G rs199469651
NM_003590.5(CUL3):c.1207-1G>A rs199469654
NM_003590.5(CUL3):c.1207-26A>G rs199469650
NM_003590.5(CUL3):c.1207-28T>G rs199469649
NM_003590.5(CUL3):c.1207-3C>T rs199469653
NM_003590.5(CUL3):c.1207-5T>A rs199469652
NM_003590.5(CUL3):c.1236G>A (p.Leu412=) rs199469655
NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) rs199469656
NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) rs199469658
NM_003590.5(CUL3):c.1376_1377+4del rs199469657
NM_003590.5(CUL3):c.1377+1G>C rs199469660
NM_003590.5(CUL3):c.1377+1dup rs199469659
NM_003590.5(CUL3):c.1377+3A>G rs199469661
NM_003610.4(RAE1):c.408C>G (p.Ile136Met) rs386352355
NM_003630.3(PEX3):c.184C>A (p.Gln62Lys) rs483352724
NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter) rs312262697
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.3(DGKE):c.472dup (p.Trp158fs) rs312262698
NM_003647.3(DGKE):c.486dup (p.Val163fs) rs312262699
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_003820.4(TNFRSF14):c.558C>G (p.Ser186Arg) rs386352373
NM_003844.4(TNFRSF10A):c.355G>A (p.Gly119Ser) rs483352726
NM_003896.4(ST3GAL5):c.714T>C (p.Thr238=) rs483352727
NM_003966.3(SEMA5A):c.2928G>C (p.Leu976=) rs386352358
NM_003995.4(NPR2):c.3048G>T (p.Gln1016His) rs386352338
NM_004187.5(KDM5C):c.4231G>A (p.Val1411Met) rs386352320
NM_004517.4(ILK):c.1020C>T (p.Val340=) rs386352317
NM_004747.4(DLG5):c.5486A>C (p.His1829Pro) rs386352298
NM_004961.4(GABRE):c.975C>A (p.Thr325=) rs483352728
NM_004991.4(MECOM):c.3314T>C (p.Val1105Ala) rs386352330
NM_005064.6(CCL23):c.232C>T (p.Arg78Ter) rs386352289
NM_005419.4(STAT2):c.598C>T (p.Gln200Ter) rs386352367
NM_005422.4(TECTA):c.2925G>T (p.Arg975=) rs386352370
NM_005559.4(LAMA1):c.2488A>C (p.Arg830=) rs386352324
NM_005688.4(ABCC5):c.1925A>G (p.Asn642Ser) rs386352272
NM_005760.3(CEBPZ):c.639T>G (p.Tyr213Ter) rs386352290
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.997+1G>A rs367537999
NM_006031.6(PCNT):c.2167C>G (p.Leu723Val) rs483352730
NM_006277.3(ITSN2):c.4732G>T (p.Ala1578Ser) rs483352731
NM_006309.4(LRRFIP2):c.90+1G>C rs386352387
NM_006618.5(KDM5B):c.1701+1G>A rs367537995
NM_006927.4(ST3GAL2):c.341T>C (p.Met114Thr) rs386352366
NM_006978.3(RNF113A):c.247T>A (p.Leu83Met) rs386352357
NM_007237.5(SP140):c.1550A>C (p.Asn517Thr) rs386352364
NM_012193.4(FZD4):c.362G>T (p.Cys121Phe) rs386352303
NM_012330.4(KAT6B):c.2486T>A (p.Leu829His) rs386352336
NM_012363.1(OR1N1):c.853C>A (p.Pro285Thr) rs201161748
NM_013292.5(MYL11):c.431C>A (p.Pro144His) rs386352335
NM_013380.4(ZNF112):c.1369A>G (p.Ile457Val) rs386352382
NM_013427.3(ARHGAP6):c.1675G>T (p.Gly559Ter) rs483352735
NM_014164.6(FXYD5):c.280A>G (p.Ser94Gly) rs386352302
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr) rs483352703
NM_014476.6(PDLIM3):c.925C>T (p.Arg309Trp) rs483352737
NM_014585.6(SLC40A1):c.473G>T (p.Trp158Leu) rs387907375
NM_014611.3(MDN1):c.818T>C (p.Val273Ala) rs386352329
NM_014945.5(ABLIM3):c.1584G>A (p.Lys528=) rs386352275
NM_014945.5(ABLIM3):c.1665G>A (p.Leu555=) rs386352274
NM_015057.5(MYCBP2):c.13840A>G (p.Thr4614Ala) rs386352333
NM_015073.3(SIPA1L3):c.4035C>G (p.Gly1345=) rs386352360
NM_015107.3(PHF8):c.1142-1G>A rs386352389
NM_015198.5(COBL):c.215G>T (p.Gly72Val) rs386352293
NM_015238.3(WWC1):c.1906G>A (p.Ala636Thr) rs386352379
NM_015340.4(LARS2):c.1584G>C (p.Trp528Cys) rs483352739
NM_015506.3(MMACHC):c.649G>T (p.Glu217Ter) rs483352740
NM_016279.4(CDH9):c.2202G>A (p.Ser734=) rs145815030
NM_016605.3(FAM53C):c.490C>T (p.Pro164Ser) rs386352301
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) rs199469640
NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val) rs199469628
NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro) rs199469630
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu) rs199469641
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) rs199469631
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) rs199469632
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) rs199469644
NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr) rs199469633
NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr) rs199469634
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) rs199469636
NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu) rs199469623
NM_017415.3(KLHL3):c.232A>G (p.Met78Val) rs199469624
NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala) rs199469625
NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter) rs199469637
NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe) rs199469626
NM_017415.3(KLHL3):c.721del (p.Leu241fs) rs199469647
NM_017415.3(KLHL3):c.753+1G>A rs199469648
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg) rs199469627
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) rs199469639
NM_017533.2(MYH4):c.4849A>G (p.Arg1617Gly) rs386352334
NM_017662.5(TRPM6):c.2392-2A>G rs386352390
NM_017662.5(TRPM6):c.5600A>G (p.His1867Arg) rs483352743
NM_017677.4(MTMR8):c.1493G>A (p.Gly498Glu) rs386352332
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_018031.6(WDR6):c.1957T>G (p.Cys653Gly) rs483352745
NM_018230.3(NUP133):c.3432G>C (p.Leu1144Phe) rs483352747
NM_018451.5(CENPJ):c.3725G>A (p.Arg1242Lys) rs483352749
NM_018451.5(CENPJ):c.669C>A (p.Tyr223Ter) rs386352291
NM_018905.3(PCDHA2):c.1010C>A (p.Ser337Ter) rs386352344
NM_018906.3(PCDHA3):c.1930C>T (p.Arg644Cys) rs386352345
NM_018928.3(PCDHGC4):c.462G>A (p.Leu154=) rs386352347
NM_019045.5(WDR44):c.1837C>T (p.Leu613Phe) rs483352750
NM_019592.7(RNF20):c.247C>T (p.Gln83Ter) rs367537997
NM_020041.3(SLC2A9):c.1240C>T (p.Leu414=) rs386352361
NM_020366.4(RPGRIP1):c.1978G>T (p.Asp660Tyr) rs483352751
NM_020546.3(ADCY2):c.489C>G (p.Val163=) rs386352276
NM_020706.2(SCAF4):c.1518C>T (p.Cys506=) rs386352359
NM_020801.4(ARRDC3):c.1022A>G (p.Glu341Gly) rs386352279
NM_021072.4(HCN1):c.528T>C (p.Ile176=) rs386352316
NM_022089.4(ATP13A2):c.237C>G (p.Pro79=) rs386352280
NM_022113.6(KIF13A):c.2511T>C (p.Arg837=) rs483352706
NM_022458.4(LMBR1):c.460C>A (p.Leu154Ile) rs483352752
NM_022744.4(RUSF1):c.831C>G (p.Arg277=) rs386834265
NM_024662.3(NAT10):c.2424G>C (p.Leu808=) rs386352337
NM_024753.5(TTC21B):c.2240A>G (p.Gln747Arg) rs483352753
NM_024885.4(TAF7L):c.213C>T (p.Ala71=) rs483352754
NM_025004.3(CCDC15):c.901-1G>C rs386352386
NM_031892.3(SH3KBP1):c.1258A>G (p.Arg420Gly) rs483352756
NM_031935.3(HMCN1):c.4673C>A (p.Ser1558Ter) rs483352757
NM_032147.5(USP44):c.213G>T (p.Glu71Asp) rs11548854
NM_032230.3(METTL25):c.208G>A (p.Glu70Lys) rs386352284
NM_032438.4(L3MBTL3):c.1525T>C (p.Phe509Leu) rs386352323
NM_032632.5(PAPOLA):c.1464A>G (p.Val488=) rs483352759
NM_033028.5(BBS4):c.1316C>T (p.Pro439Leu) rs483352761
NM_033033.4(KRT82):c.630G>C (p.Glu210Asp) rs483352762
NM_033223.5(GABRG3):c.336A>G (p.Thr112=) rs483352763
NM_052942.5(GBP5):c.1745C>T (p.Pro582Leu) rs386352305
NM_053276.4(VIT):c.1031G>T (p.Gly344Val) rs386352378
NM_054021.2(GPR101):c.1156A>C (p.Asn386His) rs386352311
NM_080632.3(UPF3B):c.772G>C (p.Glu258Gln) rs483352765
NM_138389.4(FAM114A1):c.704G>C (p.Gly235Ala) rs386352300
NM_152281.3(GORAB):c.1091C>G (p.Ser364Ter) rs386352310
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153838.5(ADGRF4):c.1423G>T (p.Ala475Ser) rs386352312
NM_170665.4(ATP2A2):c.131A>G (p.Glu44Gly) rs386352281
NM_173495.3(PTCHD1):c.1230C>A (p.Ile410=) rs483352769
NM_176824.3(BBS7):c.1135T>G (p.Phe379Val) rs483352770
NM_194293.4(XIRP1):c.1955C>A (p.Pro652Gln) rs386352380
NM_198253.3(TERT):c.2354C>A (p.Pro785Gln) rs483352771
NM_198291.3(SRC):c.1200C>G (p.Asn400Lys) rs367543243
NM_198489.3(CENATAC):c.815A>G (p.Gln272Arg) rs386352288
NM_199180.4(KIRREL2):c.343G>A (p.Ala115Thr) rs386352322
NM_199355.4(ADAMTS18):c.1453T>A (p.Phe485Ile) rs483352773
NM_203290.4(POLR1C):c.882G>T (p.Lys294Asn) rs386352351
NM_203446.3(SYNJ1):c.3635C>A (p.Ala1212Glu) rs386352368
NM_207197.3(ADAM15):c.2307C>T (p.Pro769=) rs483352774
NM_207354.3(ANKRD13D):c.251G>T (p.Gly84Val) rs386352277
NM_213594.3(RFX4):c.175C>T (p.Pro59Ser) rs386352356
NM_213647.3(FGFR4):c.1684C>T (p.Leu562=) rs483352775
NM_213656.4(KRT39):c.1461A>C (p.Arg487Ser) rs483352776

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