ClinVar Miner

List of variants reported as pathogenic by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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ClinVar version:
Total variants: 394
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869 0.00009
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) rs370678173 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys) rs370861594 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00003
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter) rs267606954 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter) rs746053763 0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter) rs1064793916 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe) rs760307559 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter) rs1279412522 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr) rs564631426 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 0.00001
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter) rs199476373 0.00001
NM_000497.4(CYP11B1):c.1012C>T (p.Gln338Ter) rs1214983921 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter) rs759809305 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter) rs199503269 0.00001
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) rs756015202 0.00001
NC_000015.10:g.72647900_72648958del
NC_000017.11:g.42536173_42544450del
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000038.6(APC):c.1742del (p.Lys581fs) rs1060503259
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000045.4(ARG1):c.839del (p.Pro280fs) rs2114551140
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
NM_000046.5(ARSB):c.438del (p.Trp146fs)
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000051.4(ATM):c.9010A>T (p.Lys3004Ter)
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000088.4(COL1A1):c.2172del (p.Gly725fs) rs1567757138
NM_000094.4(COL7A1):c.1319del (p.Glu440fs) rs1559435706
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000147.5(FUCA1):c.577dup (p.Tyr193fs)
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC1):c.388_400del (p.Met130fs) rs1567705064
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) rs2143866454
NM_000152.5(GAA):c.1703A>G (p.His568Arg)
NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del)
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
NM_000153.4(GALC):c.1717dup (p.Thr573fs)
NM_000153.4(GALC):c.1821dup (p.Thr608fs) rs2139941220
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1878_1894del (p.Lys627fs)
NM_000153.4(GALC):c.194G>A (p.Gly65Glu) rs1555384318
NM_000153.4(GALC):c.1964del (p.Pro655fs) rs2139925832
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)
NM_000202.8(IDS):c.138C>A (p.Asp46Glu)
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.404_405del (p.Lys135fs) rs1557340221
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.753del (p.Asp252fs)
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs) rs2153022399
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter) rs2153015621
NM_000203.5(IDUA):c.300-4092_300-2318del
NM_000203.5(IDUA):c.34_46del (p.Ala12fs)
NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049
NM_000206.3(IL2RG):c.922del (p.Ser308fs) rs2147746685
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter) rs1666408900
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.306+2T>A
NM_000249.4(MLH1):c.790+2T>A rs267607790
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter) rs763872353
NM_000251.3(MSH2):c.337A>T (p.Lys113Ter) rs1573437064
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter) rs878853824
NM_000251.3(MSH2):c.792+1G>C rs267607934
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter)
NM_000268.4(NF2):c.600-14C>A
NM_000268.4(NF2):c.863C>G (p.Ser288Ter) rs2066580454
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.2000C>T (p.Ser667Leu) rs2058756032
NM_000271.5(NPC1):c.2291C>A (p.Ala764Glu)
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000297.4(PKD2):c.2118+1G>C rs1720594399
NM_000321.3(RB1):c.1695+30914_1695+30917dup rs558917628
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) rs61752438
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) rs2134598107
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter) rs2134590423
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000426.4(LAMA2):c.4959+1del rs1583591577
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000487.6(ARSA):c.1030del (p.Ala344fs)
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)
NM_000487.6(ARSA):c.582del (p.Trp195fs) rs2082680996
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.891_895del (p.Gly298fs)
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.1241dup (p.Ile416fs) rs1910631809
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.374del (p.Pro125fs)
NM_000512.5(GALNS):c.423-11_425del
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter)
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) rs1057519464
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) rs1057519460
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000531.6(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) rs2134017443
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) rs748411156
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
NM_000543.5(SMPD1):c.1788T>A (p.Cys596Ter)
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.734_739del (p.Tyr245_Gly247delinsCys)
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000743.5(CHRNA3):c.518_519del (p.Cys173fs)
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001034853.2(RPGR):c.2512del (p.Glu838fs) rs2147197281
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs) rs879253767
NM_001040142.2(SCN2A):c.1552G>T (p.Glu518Ter) rs1553569732
NM_001042492.3(NF1):c.1296_1297dup (p.Tyr433fs) rs2066619428
NM_001042492.3(NF1):c.3778_3781del (p.Met1260fs) rs2067187424
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001080.3(ALDH5A1):c.1402+1G>A rs762290992
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter) rs1886637325
NM_001080463.1(DYNC2H1):c.[5053G>A];[7784A>G]
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) rs1131692158
NM_001130987.2(DYSF):c.730del (p.Leu244fs) rs1553521119
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) rs587777743
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001195248.2(APTX):c.776del (p.Val259fs) rs1563945076
NM_001244008.2(KIF1A):c.812_817del (p.Ile271_Asn272del)
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
NM_001271.4(CHD2):c.2324_2328del (p.Glu775fs)
NM_001278064.2(GRM1):c.26dup (p.Ala11fs) rs758809498
NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs) rs2090805858
NM_001353345.2(SETD1B):c.214del (p.Arg72fs)
NM_001371596.2(MFSD8):c.1437G>A (p.Trp479Ter) rs2148837137
NM_001371623.1(TCOF1):c.2142+1del rs1763794839
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001399.5(EDA):c.686dup (p.Gly230fs) rs1602618442
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs) rs1131691657
NM_002615.7(SERPINF1):c.77dup (p.Glu27fs) rs1272920425
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003413.4(ZIC3):c.599del (p.Arg200fs)
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.6485T>A (p.Leu2162Ter)
NM_004006.3(DMD):c.6615-2A>G rs1557011973
NM_004006.3(DMD):c.8668+1G>A rs2149256957
NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs)
NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter) rs1564725603
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004431.5(EPHA2):c.2825+2del
NM_004646.4(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr) rs1060499548
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.397_398dup (p.Glu134fs) rs1829869628
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.[2086G>A];[385C>T]
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter) rs1569356968
NM_006432.5(NPC2):c.82+2T>C rs879253740
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006914.4(RORB):c.202C>T (p.Gln68Ter) rs2118433425
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.5074+1G>A rs80358053
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_014297.5(ETHE1):c.505+1G>C rs935855792
NM_014967.5(FAN1):c.1369C>T (p.Gln457Ter)
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter) rs997408852
NM_015512.5(DNAH1):c.10468_10471del (p.Arg3490fs) rs759646845
NM_015512.5(DNAH1):c.8668del (p.Thr2890fs)
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter) rs115506357
NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)
NM_016648.4(LARP7):c.225_226del (p.Ser76fs)
NM_017909.4(RMND1):c.504+1G>A rs1562800908
NM_017988.6(SCYL2):c.214_234del (p.Asp72_Glu78del)
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg) rs587779380
NM_019098.5(CNGB3):c.1781+1G>T rs1375507464
NM_021008.4(DEAF1):c.719T>C (p.Phe240Ser) rs2133402508
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.2051_2054del (p.Glu684fs) rs2124076122
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024685.4(BBS10):c.180dup (p.Glu61fs)
NM_024884.3(L2HGDH):c.1A>G (p.Met1Val) rs1477101414
NM_024989.4(PGAP1):c.1546_1549del (p.Val516fs)
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.5528del (p.Phe1843fs)
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter) rs750260671
NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter) rs777263062
NM_031293.3(PMFBP1):c.841C>T (p.Gln281Ter)
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_033305.3(VPS13A):c.555+1G>A rs1590003601
NM_033380.3(COL4A5):c.2918-1G>A rs104886372
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_138425.4(C12orf57):c.53_54del rs782335776
NM_138694.4(PKHD1):c.1260del (p.Thr421fs)
NM_152416.3(NDUFAF6):c.[328G>T];[611C>T]
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter) rs1600732174
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) rs1553846331
NM_198239.2(CCN6):c.49-1G>A
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) rs1567782714
NM_203446.3(SYNJ1):c.3208C>T (p.Arg1070Ter) rs1373545506
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) rs1553300016

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