ClinVar Miner

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

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: 751
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HGVS dbSNP
NM_000018.4(ACADVL):c.1182+17C>A rs191276923
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7630-17T>C rs116047570
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.9006C>T (p.Phe3002=) rs540172506
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.6795C>T rs3218699
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000059.3(BRCA2):c.*14C>T rs373436334
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.2490C>T (p.Asn830=) rs56331088
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.4977C>T (p.Ser1659=) rs45484897
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) rs587780658
NM_000059.3(BRCA2):c.6675A>G (p.Thr2225=) rs28897741
NM_000059.3(BRCA2):c.68-7dup rs276174878
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6938-25_6938-19del rs762815401
NM_000059.3(BRCA2):c.6960G>A (p.Leu2320=) rs373134168
NM_000059.3(BRCA2):c.8352G>T (p.Arg2784=) rs747664806
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9411T>G (p.Thr3137=) rs1799968
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) rs80359811
NM_000059.4(BRCA2):c.-15A>C rs138705202
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1266G>A (p.Pro422=) rs150146702
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3993C>T (p.Thr1331=) rs148659814
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000095.3(COMP):c.218-7C>G rs554031979
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000142.4(FGFR3):c.930+10C>T rs534857289
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.2(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000238.4(KCNH2):c.1129-18C>T
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1653G>A (p.Pro551=) rs368783097
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.42A>C (p.Thr14=) rs369737664
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638
NM_000257.4(MYH7):c.5283+19C>T rs45582836
NM_000258.3(MYL3):c.130-14G>T rs192329378
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000276.4(OCRL):c.561-7T>A rs376622194
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000311.5(PRNP):c.372C>G (p.Gly124=) rs201423990
NM_000314.7(PTEN):c.855A>G (p.Glu285=) rs751888926
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124
NM_000321.2(RB1):c.2521-11G>A rs4151624
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu) rs142383658
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000455.4(STK11):c.1296G>A (p.Gln432=) rs587781179
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000459.4(TEK):c.1346A>G (p.Asn449Ser) rs149684174
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000517.6(HBA2):c.95+27C>T rs558457816
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.316-37G>T rs193922559
NM_000518.5(HBB):c.316-45G>C rs140033163
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000541.5(SAG):c.734-18C>A
NM_000546.5(TP53):c.6G>A (p.Glu2=) rs143458271
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.4493+17C>T rs45517345
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000552.4(VWF):c.5313G>T (p.Gly1771=) rs2229448
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000557.5(GDF5):c.979C>G (p.Leu327Val) rs181772082
NM_000719.7(CACNA1C):c.3829-614A>G rs114851656
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) rs201253055
NM_000941.3(POR):c.1521C>T (p.Gly507=) rs370823127
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001007792.1(NTRK1):c.338+12C>A rs41267425
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194
NM_001029835.2(CCM2):c.867-5C>T rs145003686
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419
NM_001035.3(RYR2):c.13782+20A>G
NM_001035.3(RYR2):c.2396+17T>G rs376363428
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.4596+12G>A rs148557427
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001048171.1(MUTYH):c.1506G>A (p.Pro502=) rs143796254
NM_001048171.1(MUTYH):c.654C>T (p.Thr218=) rs780747266
NM_001048171.1(MUTYH):c.956-9C>T rs3219488
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001110556.2(FLNA):c.3805+16G>A rs201016252
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756
NM_001127671.2(LIFR):c.420G>A (p.Glu140=) rs142475175
NM_001127713.1(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_001128844.2(SMARCA4):c.2275-3C>A rs117611401
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130823.3(DNMT1):c.891+8C>T rs117294281
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611
NM_001142864.4(PIEZO1):c.3456-10G>A rs188761308
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) rs114403731
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn) rs58548913
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser) rs188815734
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185
NM_001148.6(ANK2):c.4372-7C>T rs370720661
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559
NM_001204.7(BMPR2):c.621+37C>G rs78779412
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.11311+1641C>T rs140804168
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.25921+20G>A rs148460010
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.29963-13A>G rs72650008
NM_001267550.2(TTN):c.31847-17A>G rs72650025
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863
NM_001267550.2(TTN):c.34856-17A>G rs188686309
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658
NM_001267550.2(TTN):c.54812-5A>G rs375343798
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872
NM_001267550.2(TTN):c.65575+10T>C rs72646864
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69716-5C>G rs72646886
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742
NM_001322934.2(NFKB2):c.21+13G>A
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648
NM_001354689.3(RAF1):c.1728+19G>T rs5746245
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) rs111330368
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) rs115747856
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001844.5(COL2A1):c.3327+3G>A rs192229438
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187
NM_001844.5(COL2A1):c.4074+12G>T
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670
NM_001844.5(COL2A1):c.709-8G>T rs200757693
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.255-18C>A rs200300875
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002230.4(JUP):c.1054+7A>T rs371988639
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002296.4(LBR):c.927C>T (p.Ile309=) rs143164834
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160
NM_002439.5(MSH3):c.792+8G>A rs147777411
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522
NM_002471.4(MYH6):c.2928+5G>A rs28730772
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.3(MYH11):c.4579-14C>T rs377410503
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415
NM_002838.5(PTPRC):c.177C>G (p.Pro59=) rs17612648
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn) rs143229915
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) rs141443652
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003850.2(SUCLA2):c.37G>A (p.Val13Met) rs35201084
NM_003924.3(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003978.5(PSTPIP1):c.-124C>T rs760819203
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.4373T>A (p.Phe1458Tyr) rs777274879
NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213
NM_004281.3(BAG3):c.1029C>A (p.Arg343=) rs117972572
NM_004281.3(BAG3):c.1503C>A (p.Val501=) rs147277075
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004356.3(CD81):c.414T>C (p.Asp138=) rs143644902
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199
NM_004360.5(CDH1):c.2440-6C>G rs139757930
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234
NM_004444.5(EPHB4):c.2670G>T (p.Glu890Asp) rs35638378
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.936C>T (p.Asp312=) rs143840033
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282
NM_005529.7(HSPG2):c.3794-3C>A rs141000672
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005633.3(SOS1):c.2167+16del rs79984786
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) rs143346402
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569
NM_006031.6(PCNT):c.9099+12G>A
NM_006231.3(POLE):c.2781C>T (p.Asn927=) rs775486303
NM_006231.3(POLE):c.285+13C>A rs76960367
NM_006231.3(POLE):c.5135C>T (p.Ala1712Val) rs5744950
NM_006231.3(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.3(POLE):c.6495C>T (p.Arg2165=) rs114778730
NM_006231.3(POLE):c.672C>T (p.Tyr224=) rs376923206
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006254.4(PRKCD):c.315+9C>A rs200076653
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.906A>C (p.Gly302=) rs145917628
NM_006579.3(EBP):c.-74+3G>C rs188270695
NM_006767.4(LZTR1):c.-11G>A rs370616172
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_006892.4(DNMT3B):c.1760-8C>T rs2424926
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336
NM_007078.3(LDB3):c.690-4823G>A rs121908338
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820
NM_007272.3(CTRC):c.356+7G>C rs773334021
NM_007272.3(CTRC):c.494-13A>G rs762842599
NM_007272.3(CTRC):c.494-6C>T rs111790169
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.4186-10G>A rs80358172
NM_007294.3(BRCA1):c.5152+10A>G rs80358114
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=) rs775032066
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810
NM_007299.4(BRCA1):c.593+3G>A rs80358013
NM_012224.3(NEK1):c.2053G>A (p.Val685Met) rs199827465
NM_012418.4(FSCN2):c.538C>T (p.Arg180Trp) rs200332556
NM_012452.2(TNFRSF13B):c.61+10C>T rs148297590
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014391.2(ANKRD1):c.346-15T>A rs11595794
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632
NM_014646.2(LPIN2):c.-66C>T rs116643915
NM_014646.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462
NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014920.4(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_014920.4(CILK1):c.555G>A (p.Ala185=) rs138668959
NM_014920.5(CILK1):c.1448C>G (p.Ser483Cys) rs115840580
NM_014920.5(CILK1):c.666T>C (p.Thr222=) rs139739780
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015340.4(LARS2):c.1622+8G>A rs202009605
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486
NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=) rs142017323
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374
NM_020191.3(MRPS22):c.741C>G (p.His247Gln) rs140631494
NM_020297.3(ABCC9):c.4512+16C>T rs376147813
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310
NM_022356.3(P3H1):c.611C>A (p.Pro204His) rs77208721
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024334.2(TMEM43):c.392+16G>A rs150859949
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024582.4(FAT4):c.1128G>A (p.Val376=) rs202216461
NM_024582.4(FAT4):c.4303A>G (p.Ile1435Val) rs142747281
NM_024582.4(FAT4):c.5921-14C>T rs190218898
NM_024582.4(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032578.3(MYPN):c.2925+20A>C rs200111945
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032890.5(DISP1):c.3287T>C (p.Met1096Thr) rs144673025
NM_032978.7(DTNA):c.1000G>A (p.Val334Met) rs148123045
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_052945.3(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144687.3(NLRP12):c.1352G>A (p.Arg451His) rs76085152
NM_144687.3(NLRP12):c.1731G>A (p.Lys577=) rs73608454
NM_144687.3(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537
NM_144687.3(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525
NM_144687.3(NLRP12):c.424G>A (p.Asp142Asn) rs34330210
NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) rs141245482
NM_144687.3(NLRP12):c.956C>G (p.Pro319Arg) rs35401786
NM_144687.4(NLRP12):c.2414+16C>T
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307
NM_170707.4(LMNA):c.1381-13A>G rs750192865
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172056.2(KCNH2):c.542G>A (p.Arg181Gln) rs41308954
NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) rs16991652
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480
NM_177438.2(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_181798.1(KCNQ1):c.951G>A (p.Thr317=) rs144985256
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.2215-80T>C rs143141993
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622
NM_198056.2(SCN5A):c.3954G>A (p.Glu1318=) rs769473892
NM_198056.2(SCN5A):c.5175G>A (p.Pro1725=) rs372629753
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287

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