ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from CeGaT Center for Human Genetics Tuebingen and "pathogenic" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 582
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HGVS dbSNP gnomAD frequency
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) rs764928653 0.00036
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) rs759270179 0.00036
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_001184.4(ATR):c.6897+464C>G rs587777852 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) rs372246702 0.00006
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) rs564628353 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593 0.00006
NM_183065.4(TMEM107):c.*686A>G rs201558321 0.00006
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001395891.1(CLASP1):c.196-602C>T rs863225422 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_012208.4(HARS2):c.125T>G (p.Leu42Ter) rs146046742 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg) rs142083484 0.00005
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) rs760768552 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter) rs147179561 0.00004
NM_003235.5(TG):c.475C>T (p.Arg159Ter) rs759267330 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000111.3(SLC26A3):c.571-2A>G rs386833486 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_005422.4(TECTA):c.6162+1G>A rs1045921265 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter) rs137929776 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter) rs541008862 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter) rs527536011 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_004614.5(TK2):c.441del (p.Tyr148fs) rs768548319 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_018417.6(ADCY10):c.1263C>A (p.Tyr421Ter) rs770888477 0.00002
NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter) rs752054405 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp) rs104894676 0.00002
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln) rs368529673 0.00001
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) rs1302552127 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter) rs773022324 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter) rs758856471 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140 0.00001
NM_001127453.2(GSDME):c.1183+1G>A rs1554322596 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter) rs901811301 0.00001
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter) rs773948197 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val) rs545593935 0.00001
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met) rs113994053 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) rs753161833 0.00001
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter) rs527951173 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter) rs1924657431 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) rs750874617 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014804.3(KIAA0753):c.661C>T (p.Arg221Ter) rs774799042 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser) rs767619131 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000062.3(SERPING1):c.1249G>T (p.Glu417Ter) rs755108467
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr) rs1287079817
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) rs794728040
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.544-1G>A rs901360414
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe) rs1603431508
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000166.6(GJB1):c.265C>G (p.Leu89Val) rs1602349029
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter) rs754621187
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg) rs776910485
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser) rs1660701838
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His) rs1801269
NM_000350.3(ABCA4):c.4926C>A (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val) rs1659470705
NM_000369.5(TSHR):c.1835del (p.Gln612fs) rs1595179250
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000377.3(WAS):c.360+1G>T rs1057520700
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1707del (p.Ile569fs) rs767672172
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000530.8(MPZ):c.266_270dup (p.Glu91fs) rs1553259697
NM_000531.6(OTC):c.659C>T (p.Pro220Leu) rs72558426
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter) rs764122274
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter) rs74315386
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg) rs2101052251
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000836.4(GRIN2D):c.2041A>G (p.Met681Val) rs1555893359
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del) rs1554414710
NM_000937.5(POLR2A):c.1462G>A (p.Val488Met) rs2070561031
NM_000965.5(RARB):c.844G>A (p.Gly282Ser) rs1553637463
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter) rs2080116822
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) rs1203066173
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) rs1569523457
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042750.2(STAG2):c.1196+4_1196+7del
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001122769.3(LCA5):c.574dup (p.Thr192fs) rs1057519136
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001161.5(NUDT2):c.186del (p.Ala63fs) rs529087882
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) rs796053089
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001172509.2(SATB2):c.1946C>T (p.Ser649Leu) rs746319722
NM_001184.4(ATR):c.2831del (p.Ser944fs)
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys) rs1588253471
NM_001195553.2(DCX):c.305G>A (p.Arg102His) rs267606317
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) rs1553354522
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242957.3(MAK):c.1366_1367del (p.Lys456fs) rs935003657
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys) rs1064794935
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln) rs886039918
NM_001273.5(CHD4):c.3530G>A (p.Arg1177His) rs2136209181
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys) rs1814690517
NM_001320.7(CSNK2B):c.1A>G (p.Met1Val) rs1801755635
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001370100.5(ZMYND11):c.1388_1389del (p.Cys463fs) rs1952647904
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter) rs2083361357
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001379180.1(ESRRB):c.923dup (p.Ile309fs)
NM_001394132.1(HRURF):c.2T>A (p.Met1Lys) rs387906382
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001414.4(EIF2B1):c.588_589del (p.Gly196_Ala197insTer) rs768945314
NM_001492.6(GDF1):c.909dup (p.Val304fs) rs606231383
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) rs373792616
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001844.5(COL2A1):c.519del (p.Gly174fs) rs1592235124
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001853.4(COL9A3):c.1739dup (p.Gly581fs) rs764718355
NM_001953.5(TYMP):c.274del (p.Thr92fs) rs2069502314
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter) rs146686141
NM_002317.7(LOX):c.545del (p.Pro182fs) rs1372924173
NM_002437.5(MPV17):c.185del (p.Val62fs) rs755624411
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer) rs1580553607
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter) rs578113271
NM_002439.5(MSH3):c.2227_2228del (p.Gln743fs) rs1371600437
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002900.3(RBP3):c.1227del (p.Val411fs)
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln) rs2037146907
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003722.5(TP63):c.1007G>A (p.Gly336Asp) rs2108806204
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004493.3(HSD17B10):c.634A>G (p.Lys212Glu) rs886041974
NM_004663.5(RAB11A):c.461C>T (p.Ser154Leu)
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter) rs1648636515
NM_004722.4(AP4M1):c.1129del (p.Leu377fs) rs1432802140
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005430.4(WNT1):c.999_1021del (p.Thr336fs) rs1941014492
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005859.5(PURA):c.45_60dup (p.Leu21fs) rs1581036015
NM_005859.5(PURA):c.692T>G (p.Phe231Cys) rs1554129113
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) rs1057517991
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) rs1942181364
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) rs1131691696
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg) rs1576935161
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter) rs1488237523
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.950_951dup (p.Gly318fs) rs1470210640
NM_006579.3(EBP):c.293C>T (p.Ser98Phe) rs2147154765
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter) rs752547717
NM_006767.4(LZTR1):c.2412dup (p.Lys805fs) rs1924895839
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_007118.4(TRIO):c.4282C>T (p.Arg1428Ter) rs1747351128
NM_007194.4(CHEK2):c.908+1G>T rs587781699
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys) rs2134048726
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014270.5(SLC7A9):c.956_957dup (p.Thr320fs) rs770340227
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
NM_014704.4(CEP104):c.1891C>T (p.Arg631Ter) rs1644169357
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser) rs1267383375
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del) rs1555546699
NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018474.6(KIZ):c.251_258del (p.Phe84fs) rs1254494198
NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) rs772429581
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_021008.4(DEAF1):c.700T>G (p.Trp234Gly) rs1057524157
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_024496.4(IRF2BPL):c.499C>T (p.Gln167Ter) rs1566786613
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024747.6(HPS6):c.1054_1055del (p.Arg352fs)
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs) rs1754555183
NM_032228.6(FAR1):c.1438C>T (p.Arg480Cys) rs12799308
NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer) rs1594131663
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033380.3(COL4A5):c.1904G>A (p.Gly635Asp) rs281874683
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys) rs786203988
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr) rs2139519168
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) rs762550967
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_183065.4(TMEM107):c.*622G>C rs201266955
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer) rs2108622234
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln) rs1332489637
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu) rs1581453572
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys) rs1390117240
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234

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