ClinVar Miner

Variants with conflicting interpretations "benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "likely benign" from GeneDx

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 600
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03637
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_001243156.2(TAF1C):c.*1082A>G rs2288024 0.03108
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=) rs56034424 0.01951
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_000517.6(HBA2):c.300+55T>G rs2362746 0.01848
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met) rs61734638 0.01825
NM_000138.5(FBN1):c.443-35A>G rs116842662 0.01770
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=) rs73072968 0.01641
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_000089.4(COL1A2):c.70+719_70+720del rs201691876 0.01601
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_001377.3(DYNC2H1):c.10327-53A>G rs116174151 0.01569
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=) rs56316238 0.01492
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_001142864.4(PIEZO1):c.1297-14T>C rs11860864 0.01373
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile) rs34722354 0.01358
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_032228.6(FAR1):c.12C>T (p.Ile4=) rs117395380 0.01310
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_000141.5(FGFR2):c.110-54C>T rs3135732 0.01267
NM_005228.5(EGFR):c.1881-721G>A rs17336988 0.01263
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_000548.5(TSC2):c.848+276C>G rs60154230 0.01237
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_014251.3(SLC25A13):c.615+36T>C rs56773234 0.01220
NM_000346.4(SOX9):c.-169G>A rs115615437 0.01212
NM_005529.7(HSPG2):c.2558+17G>T rs74060201 0.01206
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_000071.3(CBS):c.829-91G>A rs150181241 0.01153
NM_001042492.3(NF1):c.3974+38T>G rs9894862 0.01144
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_006182.4(DDR2):c.83-4C>T rs76156815 0.01091
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_000352.6(ABCC8):c.4119+18A>G rs75967811 0.01067
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_000193.4(SHH):c.301-131C>T rs9333618 0.01029
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_001244008.2(KIF1A):c.363+16C>T rs7594569 0.01003
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_014208.3(DSPP):c.3561T>C (p.Ser1187=) rs369987019 0.00994
NM_147127.5(EVC2):c.3361-89C>A rs116392680 0.00965
NM_001142864.4(PIEZO1):c.7152C>T (p.Gly2384=) rs78114078 0.00953
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_000546.6(TP53):c.1100+30A>T rs17880847 0.00929
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_006182.4(DDR2):c.699C>T (p.Thr233=) rs56351141 0.00925
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00910
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_004239.4(TRIP11):c.5160+59A>G rs117502191 0.00901
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) rs11555434 0.00876
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00844
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) rs77289466 0.00827
NM_000435.3(NOTCH3):c.2566+24G>T rs151276393 0.00824
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907 0.00815
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_015978.3(TNNI3K):c.2057T>C (p.Ile686Thr) rs3737564 0.00806
NM_006182.4(DDR2):c.1505-19G>A rs143729297 0.00789
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_001142864.4(PIEZO1):c.6219C>T (p.Tyr2073=) rs61745850 0.00779
NM_000435.3(NOTCH3):c.197+24C>G rs188132716 0.00778
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_000435.3(NOTCH3):c.1952-23G>A rs147014533 0.00747
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_006506.5(RASA2):c.2226-5C>T rs112582979 0.00714
NM_006182.4(DDR2):c.2481G>T (p.Leu827=) rs35077871 0.00708
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_001024630.4(RUNX2):c.1087+17T>C rs148013252 0.00680
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_014208.3(DSPP):c.3204T>C (p.Asp1068=) rs370264407 0.00665
NM_005529.7(HSPG2):c.3967C>G (p.Leu1323Val) rs10917058 0.00662
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001458.5(FLNC):c.352+10G>A rs79489893 0.00639
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_001081.4(CUBN):c.5080+17T>C rs79034718 0.00630
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_005422.4(TECTA):c.5384-19G>A rs7111480 0.00609
NM_000162.5(GCK):c.46-5594A>G rs75119141 0.00607
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905 0.00599
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_177438.3(DICER1):c.5095+13C>T rs116247322 0.00577
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) rs36067616 0.00564
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) rs138064042 0.00549
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_001377229.1(DISP1):c.1950A>G (p.Thr650=) rs73130656 0.00538
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu) rs6828134 0.00535
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_000942.5(PPIB):c.344-61C>T rs2241995 0.00522
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_006767.4(LZTR1):c.201-8C>T rs183476594 0.00520
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_001127511.3(APC):c.-181C>T rs115658307 0.00491
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_015340.4(LARS2):c.765G>A (p.Ala255=) rs116272561 0.00466
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_006182.4(DDR2):c.408T>C (p.His136=) rs2271305 0.00463
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_006231.4(POLE):c.1359+18C>T rs5744775 0.00455
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_000059.4(BRCA2):c.9257-113T>G rs191553604 0.00449
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295 0.00445
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971 0.00436
NM_004990.4(MARS1):c.1753+7A>G rs117914586 0.00435
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_006506.5(RASA2):c.26C>T (p.Ala9Val) rs200191034 0.00432
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_000088.4(COL1A1):c.2127+60T>C rs112502723 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_003599.4(SUPT3H):c.101+36483_101+36485del rs139788537 0.00393
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000088.4(COL1A1):c.4005+44G>A rs145008436 0.00381
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_005529.7(HSPG2):c.4176T>C (p.His1392=) rs62642526 0.00369
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_000112.4(SLC26A2):c.*83T>G rs143847430 0.00356
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_015512.5(DNAH1):c.3090G>A (p.Ala1030=) rs140275399 0.00355
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_001005361.3(DNM2):c.1545+14C>G rs114713494 0.00350
NM_021939.4(FKBP10):c.504C>T (p.Pro168=) rs113640022 0.00350
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=) rs77989135 0.00333
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=) rs78245030 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=) rs35106977 0.00325
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_001457.4(FLNB):c.4222+19A>C rs146229370 0.00319
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_015512.5(DNAH1):c.872-15C>T rs143657729 0.00315
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_015512.5(DNAH1):c.11788-14C>T rs141567808 0.00310
NM_015512.5(DNAH1):c.12375A>T (p.Thr4125=) rs61734637 0.00310
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_015512.5(DNAH1):c.10422T>C (p.Leu3474=) rs148913561 0.00302
NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser) rs61734643 0.00302
NM_015512.5(DNAH1):c.4263C>T (p.Pro1421=) rs61739897 0.00300
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_002473.6(MYH9):c.5181G>A (p.Leu1727=) rs115170675 0.00292
NM_015512.5(DNAH1):c.1286+16G>A rs190176840 0.00289
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_001303256.3(MORC2):c.226+18T>C rs114021247 0.00279
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
NM_004100.5(EYA4):c.804+16G>T rs13362743 0.00276
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) rs147883884 0.00275
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173 0.00274
NM_078470.6(COX15):c.1026C>T (p.Phe342=) rs147724430 0.00264
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_001003800.2(BICD2):c.454-19T>C rs114997314 0.00256
NM_001130823.3(DNMT1):c.4773+18C>T rs183300496 0.00255
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys) rs142776152 0.00253
NM_001458.5(FLNC):c.4737+15A>G rs182734223 0.00252
NM_021939.4(FKBP10):c.1734C>T (p.Val578=) rs115239900 0.00250
NM_001457.4(FLNB):c.4222+8A>G rs190025781 0.00248
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00242
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00242
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00239
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_001378183.1(PIEZO2):c.7326C>T (p.Tyr2442=) rs72970080 0.00237
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001457.4(FLNB):c.4377T>C (p.Val1459=) rs149921907 0.00232
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001457.4(FLNB):c.274A>G (p.Ile92Val) rs62622011 0.00229
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_001303256.3(MORC2):c.2841+20C>T rs192723178 0.00218
NM_001457.4(FLNB):c.4362G>A (p.Pro1454=) rs150844992 0.00217
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_000256.3(MYBPC3):c.2309-27G>A rs150212048 0.00204
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750 0.00180
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_024753.5(TTC21B):c.262+16G>A rs192525886 0.00179
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861 0.00170
NM_006182.4(DDR2):c.1099+12A>C rs144350332 0.00170
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_000384.3(APOB):c.3279C>G (p.Thr1093=) rs72653075 0.00163
NM_031475.3(ESPN):c.1248G>A (p.Pro416=) rs139332523 0.00163
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_001457.4(FLNB):c.6773-13C>A rs200653965 0.00149
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_021625.5(TRPV4):c.1585-18C>T rs201974634 0.00148
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494 0.00138
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=) rs188634763 0.00137
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00125
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001148.6(ANK2):c.7059A>G (p.Gln2353=) rs145782226 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_004984.4(KIF5A):c.714+8G>A rs199624091 0.00101
NM_001854.4(COL11A1):c.3925-16C>T rs201491791 0.00099
NM_177438.3(DICER1):c.4014G>A (p.Ala1338=) rs143454689 0.00099
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val) rs146701946 0.00098
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084 0.00096
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=) rs140364657 0.00076
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592 0.00072
NM_153676.4(USH1C):c.1740T>C (p.Pro580=) rs200085788 0.00070
NM_177438.3(DICER1):c.924C>T (p.Ala308=) rs142397473 0.00070
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) rs138739292 0.00054
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431 0.00053
NM_000142.5(FGFR3):c.2088C>T (p.Pro696=) rs142884145 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00046
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_014365.3(HSPB8):c.432-16C>T rs183447670 0.00043
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=) rs367600795 0.00039
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_002296.4(LBR):c.927C>T (p.Ile309=) rs143164834 0.00037
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) rs115452236 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_003680.4(YARS1):c.60G>A (p.Glu20=) rs143712443 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447 0.00019
NM_001457.4(FLNB):c.7198+20C>G rs201580886 0.00019
NM_002691.4(POLD1):c.2955G>T (p.Arg985=) rs770495723 0.00019
NM_003072.5(SMARCA4):c.4170+16G>A rs191812860 0.00019
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001457.4(FLNB):c.4390+8T>A rs377095569 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_144997.7(FLCN):c.1278C>T (p.Ile426=) rs41459448 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) rs773886758 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736 0.00009
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000179.3(MSH6):c.2314C>A (p.Arg772=) rs63750138 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437 0.00005
NM_001148.6(ANK2):c.813T>C (p.His271=) rs774848857 0.00005
NM_001376.5(DYNC1H1):c.3961-14A>G rs558548356 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_002474.3(MYH11):c.444C>T (p.His148=) rs569925780 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455 0.00002
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=) rs587780662 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000095.3(COMP):c.1668+13T>A rs74432818
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.730+32del rs71142032
NM_001042492.3(NF1):c.7457+21A>G rs17881641
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001127511.3(APC):c.-126dup rs565045828
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001142864.4(PIEZO1):c.5289C>T (p.Tyr1763=) rs72811487
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001148.6(ANK2):c.11032+20TG[17] rs34201791
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_002296.4(LBR):c.893-5del rs78306811
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002890.3(RASA1):c.2691-17del rs368117332
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_006231.4(POLE):c.3275+12_3275+37del rs1057517627
NM_006506.5(RASA2):c.657G>A (p.Pro219=) rs34238772
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_012472.6(DNAAF11):c.974+18G>A rs185791758
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_031475.3(ESPN):c.702C>G (p.Ser234=) rs367944375
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_213599.3(ANO5):c.295-8dup rs778435515

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.