ClinVar Miner

Variants with conflicting interpretations "benign" from Labcorp Genetics (formerly Invitae), Labcorp and "uncertain significance" from Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from Labcorp Genetics (formerly Invitae), Labcorp: Collection method of the submission from Labcorp Genetics (formerly Invitae), Labcorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 327
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HGVS dbSNP gnomAD frequency
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg) rs9943208 0.02564
NM_001256071.3(RNF213):c.14072A>G (p.His4691Arg) rs12944088 0.01799
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val) rs2230723 0.01376
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_007208.4(MRPL3):c.782T>C (p.Met261Thr) rs2291381 0.01180
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser) rs17883718 0.01172
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001271696.3(ABCB7):c.246+1G>A rs61323727 0.01077
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter) rs41257904 0.00960
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000374.5(UROD):c.*3G>A rs74349352 0.00902
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile) rs139105452 0.00876
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter) rs143140599 0.00764
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_016292.3(TRAP1):c.1406G>A (p.Arg469His) rs144787542 0.00740
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_016335.6(PRODH):c.650G>A (p.Arg217His) rs148375080 0.00695
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_000637.5(GSR):c.595G>A (p.Ala199Thr) rs141805635 0.00672
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_016292.3(TRAP1):c.1330T>A (p.Tyr444Asn) rs61756351 0.00483
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu) rs115310908 0.00447
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_001367805.3(KIF23):c.293A>G (p.Asn98Ser) rs61751120 0.00427
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_005763.4(AASS):c.2459A>G (p.Lys820Arg) rs73441002 0.00420
NM_000490.5(AVP):c.230A>T (p.Glu77Val) rs193002694 0.00413
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218 0.00399
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr) rs17222632 0.00388
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001385012.1(NBEA):c.7039A>G (p.Ile2347Val) rs189755961 0.00378
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe) rs147096750 0.00367
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp) rs113358395 0.00351
NM_004357.5(CD151):c.252G>T (p.Lys84Asn) rs116211118 0.00336
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) rs149042427 0.00332
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln) rs142672241 0.00331
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr) rs147622709 0.00295
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 0.00287
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_025193.4(HSD3B7):c.103C>G (p.Arg35Gly) rs150464212 0.00282
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_000301.5(PLG):c.782G>A (p.Arg261His) rs4252187 0.00273
NM_001011719.2(ARSH):c.1072C>T (p.Arg358Cys) rs146832237 0.00271
NM_020442.6(VARS2):c.2293G>A (p.Val765Met) rs55865499 0.00270
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr) rs113768282 0.00268
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_021023.6(CFHR3):c.613+2T>C rs138839071 0.00230
NM_004070.4(CLCNKA):c.969-7C>G rs201309731 0.00227
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile) rs143647583 0.00222
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00210
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=) rs229593 0.00197
NM_002635.4(SLC25A3):c.925+4G>A rs201617025 0.00194
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_000037.4(ANK1):c.2745G>A (p.Val915=) rs143585080 0.00150
NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser) rs147059670 0.00150
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_005262.3(GFER):c.189G>C (p.Glu63Asp) rs375792737 0.00138
NM_030773.4(TUBB1):c.13G>A (p.Val5Ile) rs145280665 0.00137
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro) rs150727525 0.00131
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) rs61755731 0.00131
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) rs138855624 0.00129
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_000791.4(DHFR):c.-419C>G rs1574197 0.00126
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_024009.3(GJB3):c.187G>A (p.Val63Ile) rs61732295 0.00118
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln) rs116001173 0.00116
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu) rs375285857 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00114
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly) rs140648376 0.00113
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 0.00107
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) rs140085544 0.00105
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_001080414.4(CCDC88C):c.483+8C>T rs201193446 0.00102
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003 0.00096
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_022915.5(MRPL44):c.244A>G (p.Asn82Asp) rs113782060 0.00094
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00093
NM_001710.6(CFB):c.837C>G (p.Asp279Glu) rs147564718 0.00092
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_017909.4(RMND1):c.1085G>A (p.Arg362His) rs142588921 0.00091
NM_001079.4(ZAP70):c.1289+10G>A rs200538234 0.00088
NM_003465.3(CHIT1):c.1351C>T (p.Pro451Ser) rs141079733 0.00082
NM_003465.3(CHIT1):c.89A>G (p.Asn30Ser) rs146692911 0.00081
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00078
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp) rs183087139 0.00076
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_024664.4(PPCS):c.519G>A (p.Ala173=) rs200337358 0.00069
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00068
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln) rs149168939 0.00067
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly) rs199473068 0.00057
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His) rs577357377 0.00057
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_001367805.3(KIF23):c.213T>C (p.Thr71=) rs145233110 0.00055
NM_000637.5(GSR):c.493-18T>G rs8190972 0.00052
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His) rs151045115 0.00052
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_001355436.2(SPTB):c.774G>A (p.Thr258=) rs12435635 0.00051
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser) rs148871144 0.00048
NM_001142864.4(PIEZO1):c.5312C>T (p.Pro1771Leu) rs202099525 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001367805.3(KIF23):c.1265G>A (p.Arg422Gln) rs150307169 0.00046
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00045
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala) rs550993341 0.00041
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu) rs201420881 0.00039
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751 0.00038
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val) rs531972155 0.00038
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe) rs116959874 0.00038
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) rs565096713 0.00036
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512 0.00035
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001355436.2(SPTB):c.96T>C (p.Asn32=) rs141340359 0.00034
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys) rs182793773 0.00031
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_001142864.4(PIEZO1):c.5768C>T (p.Ala1923Val) rs771257968 0.00029
NM_004750.5(CRLF1):c.661C>T (p.Arg221Cys) rs199625640 0.00029
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn) rs114157340 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_001142864.4(PIEZO1):c.5105C>T (p.Thr1702Met) rs377701196 0.00028
NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln) rs150013838 0.00028
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_001376013.1(EPB41):c.848C>T (p.Thr283Ile) rs189183599 0.00026
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) rs200473895 0.00026
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val) rs539005229 0.00024
NM_003321.5(TUFM):c.427G>A (p.Gly143Ser) rs34283928 0.00024
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00024
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_001367805.3(KIF23):c.690A>G (p.Ile230Met) rs199679829 0.00021
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) rs143641292 0.00020
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu) rs143227399 0.00020
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_030773.4(TUBB1):c.400C>T (p.Gln134Ter) rs199948010 0.00019
NM_030787.4(CFHR5):c.508G>A (p.Val170Met) rs201073457 0.00019
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_130837.3(OPA1):c.530G>T (p.Ser177Ile) rs150279202 0.00016
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala) rs148399096 0.00015
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_003126.4(SPTA1):c.7189G>A (p.Asp2397Asn) rs576803383 0.00014
NM_004606.5(TAF1):c.235+3G>A rs368024152 0.00014
NM_001129820.2(SLFN14):c.1456C>T (p.Arg486Ter) rs192498365 0.00013
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln) rs371674362 0.00013
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp) rs143827332 0.00011
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser) rs545171267 0.00009
NM_005560.6(LAMA5):c.6740C>T (p.Ala2247Val) rs201066079 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) rs118088187 0.00006
NM_003632.3(CNTNAP1):c.2747A>G (p.Tyr916Cys) rs369859767 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met) rs369383271 0.00004
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp) rs61751644 0.00003
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala) rs63750797 0.00003
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg) rs587781795 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) rs746338306 0.00003
NM_004085.4(TIMM8A):c.251C>T (p.Thr84Ile) rs201897402 0.00003
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys) rs775390721 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp) rs587781750 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys) rs587779971 0.00001
NM_000637.5(GSR):c.882+6G>A rs558898648 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr) rs754231971
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.369A>T (p.Lys123Asn) rs587782106
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
NM_000505.4(F12):c.115G>A (p.Val39Ile)
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_001025356.3(ANO6):c.2028C>T (p.Phe676=)
NM_001142864.4(PIEZO1):c.1009C>T (p.Pro337Ser)
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) rs902069811
NM_001142864.4(PIEZO1):c.1364C>T (p.Thr455Met)
NM_001142864.4(PIEZO1):c.1375C>T (p.Arg459Cys)
NM_001142864.4(PIEZO1):c.1534C>T (p.Pro512Ser)
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2857C>T (p.Arg953Cys)
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr) rs770222800
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.4103G>A (p.Arg1368Gln)
NM_001142864.4(PIEZO1):c.4720G>A (p.Glu1574Lys) rs773645030
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
NM_001142864.4(PIEZO1):c.5602C>T (p.Arg1868Cys)
NM_001142864.4(PIEZO1):c.5720C>T (p.Thr1907Met)
NM_001142864.4(PIEZO1):c.5863C>T (p.Arg1955Cys)
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.6827C>T (p.Ala2276Val)
NM_001142864.4(PIEZO1):c.6835C>T (p.Arg2279Cys)
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7234C>T (p.Arg2412Trp)
NM_001142864.4(PIEZO1):c.7316+4AGTG[3] rs368997650
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg)
NM_001142864.4(PIEZO1):c.919G>A (p.Gly307Ser)
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
NM_001355436.2(SPTB):c.5652G>A (p.Ala1884=) rs146536978
NM_001367805.3(KIF23):c.1273G>A (p.Val425Met)
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
NM_001388308.1(KIF12):c.1715C>G (p.Thr572Ser)
NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)
NM_002055.5(GFAP):c.462-8dup rs572562362
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003126.4(SPTA1):c.2296G>A (p.Ala766Thr)
NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
NM_003465.3(CHIT1):c.1155_1156+2del rs143439055
NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val) rs1065761
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_005006.7(NDUFS1):c.2135A>G (p.Lys712Arg)
NM_005666.4(CFHR2):c.656_657del (p.Ile219fs) rs558048038
NM_006941.4(SOX10):c.601G>A (p.Ala201Thr)
NM_012254.3(SLC27A5):c.1377+11G>A
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr)
NM_014363.6(SACS):c.1123G>A (p.Val375Ile)
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp)
NM_014363.6(SACS):c.6278G>A (p.Arg2093His)
NM_014915.3(ANKRD26):c.-77C>G rs546768605
NM_015559.3(SETBP1):c.161G>T (p.Arg54Leu) rs140717709
NM_015559.3(SETBP1):c.3056G>A (p.Arg1019His)
NM_016562.4(TLR7):c.3094G>A (p.Ala1032Thr)
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup) rs551671819
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) rs142214608

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