ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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: 432
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HGVS dbSNP gnomAD frequency
NM_019076.5(UGT1A8):c.855+63319T>G rs7586110 0.34319
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00810
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00434
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00380
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00371
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00358
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 0.00350
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00304
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00291
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00277
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00261
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00261
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00260
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477 0.00258
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756 0.00241
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392 0.00236
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00235
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) rs146844731 0.00221
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00220
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_007272.3(CTRC):c.-59C>T rs183658182 0.00217
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser) rs142269166 0.00207
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) rs76773981 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys) rs74664147 0.00203
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00199
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00196
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) rs146623116 0.00184
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_002439.5(MSH3):c.1897-12T>A rs56244266 0.00174
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00172
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00171
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00163
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val) rs115466520 0.00144
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
NM_000316.3(PTH1R):c.988+16G>A rs140651831 0.00136
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00131
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468 0.00123
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) rs111748421 0.00121
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00120
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00116
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 0.00104
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00101
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00094
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084 0.00094
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00094
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00091
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_000398.7(CYB5R3):c.334-15G>A rs200909784 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00087
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00082
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00074
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00070
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00066
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00066
NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn) rs140682366 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00065
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn) rs117688560 0.00064
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104 0.00063
NM_001142864.4(PIEZO1):c.6661-12T>G rs540049109 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790 0.00060
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00060
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00059
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00056
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749 0.00054
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00054
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp) rs374203151 0.00053
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00049
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00049
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00048
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00048
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00047
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00046
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00046
NM_014208.3(DSPP):c.2455G>A (p.Asp819Asn) rs371825362 0.00044
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00044
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00042
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00042
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00042
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala) rs550993341 0.00041
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00040
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_003244.4(TGIF1):c.723G>A (p.Pro241=) rs114912664 0.00039
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00038
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00038
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00038
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln) rs565307908 0.00035
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_003126.4(SPTA1):c.1687C>T (p.Arg563Trp) rs369087649 0.00035
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=) rs144092577 0.00034
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00033
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile) rs147587391 0.00032
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00030
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly) rs191151467 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) rs372214186 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00027
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00027
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00026
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His) rs144692310 0.00025
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00023
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) rs959344565 0.00021
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00021
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351 0.00021
NM_182961.4(SYNE1):c.8005-3C>T rs117084693 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00019
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile) rs776788949 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00017
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) rs747301309 0.00016
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser) rs543115615 0.00016
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.2356-15T>A rs189674303 0.00015
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly) rs541264551 0.00015
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00014
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr) rs757753448 0.00014
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) rs752372837 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00012
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_016169.4(SUFU):c.1245C>T (p.Gly415=) rs144158469 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468 0.00009
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00009
NM_001142864.4(PIEZO1):c.1466G>A (p.Arg489His) rs534638031 0.00009
NM_001142864.4(PIEZO1):c.6553G>A (p.Ala2185Thr) rs376951269 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu) rs377345366 0.00007
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00007
NM_001142864.4(PIEZO1):c.5744G>A (p.Arg1915His) rs755722952 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001457.4(FLNB):c.1216G>A (p.Val406Met) rs367842487 0.00007
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00007
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val) rs542776862 0.00006
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met) rs556000493 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633 0.00005
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg) rs148043654 0.00005
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu) rs63750611 0.00004
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met) rs569847841 0.00004
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 0.00004
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 0.00003
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln) rs770801747 0.00003
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00003
NM_001142864.4(PIEZO1):c.2152G>A (p.Gly718Ser) rs755885744 0.00003
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln) rs1180628646 0.00003
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00003
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 0.00003
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00003
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys) rs750467268 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys) rs63750328 0.00002
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala) rs41295290 0.00002
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) rs587779967 0.00002
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00002
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn) rs140053197 0.00002
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met) rs759869189 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00002
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) rs398122724 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu) rs587782593 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.869T>C (p.Leu290Pro) rs751309721 0.00001
NM_000249.4(MLH1):c.221A>T (p.Asp74Val) rs751894165 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys) rs587779971 0.00001
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser) rs1233448699 0.00001
NM_000435.3(NOTCH3):c.2053C>A (p.Pro685Thr) rs774900511 0.00001
NM_000541.5(SAG):c.511A>G (p.Lys171Glu) rs552862207 0.00001
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935 0.00001
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg) rs578112440 0.00001
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser) rs1179291814 0.00001
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met) rs868467734 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_004958.4(MTOR):c.5078A>G (p.His1693Arg) rs1192512411 0.00001
NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr) rs746612786 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_012330.4(KAT6B):c.782C>T (p.Ala261Val) rs935089030 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1(MT-TS2):m.12236G>A rs28359170
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu) rs63750143
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000249.4(MLH1):c.1309C>G (p.Pro437Ala) rs587782273
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg) rs1064794704
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly) rs786204185
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) rs13306206
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) rs747301309
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr) rs770222800
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser) rs753919544
NM_001142864.4(PIEZO1):c.4720G>A (p.Glu1574Lys) rs773645030
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu) rs577298130
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser) rs761270194
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381

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