ClinVar Miner

Variants with conflicting interpretations "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "benign" from Eurofins NTD LLC (GA)

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 380
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_022437.3(ABCG8):c.51C>A (p.Pro17=) rs72647316 0.00868
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583 0.00649
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 0.00173
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576

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