ClinVar Miner

List of variants reported as pathogenic for not provided by Genome Diagnostics Laboratory, University Medical Center Utrecht

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ClinVar version:
Total variants: 535
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_001001548.3(CD36):c.1150del (p.Ala384fs) rs551607784 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) rs78950939 0.00051
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter) rs371406398 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167 0.00009
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter) rs185641230 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe) rs199905054 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000085.5(CLCNKB):c.968+1G>A rs201204502 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001195248.2(APTX):c.559C>T (p.Gln187Ter) rs770579215 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000416.3(IFNGR1):c.373+1G>T rs532749039 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001267550.2(TTN):c.68484del (p.Lys22828fs) rs1370805955 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003283.6(TNNT1):c.309+1G>A rs149559898 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg) rs794727637 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter) rs749286148 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) rs121434508 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_144596.4(TTC8):c.624+1G>A rs587777808 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NM_181507.2(HPS5):c.1960A>T (p.Lys654Ter) rs1179872960 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter) rs766657895 0.00001
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter) rs1555152650
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter) rs766706861
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) rs886041149
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000090.4(COL3A1):c.753del (p.Gly252fs) rs2153501973
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp) rs1014839148
NM_000092.5(COL4A4):c.1848del (p.Pro617fs) rs2150476941
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter) rs1303057809
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.6754G>C (p.Asp2252His) rs2072683196
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.53T>C (p.Phe18Ser) rs2147487622
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) rs886037900
NM_000256.3(MYBPC3):c.1791-1G>A rs2142859427
NM_000256.3(MYBPC3):c.2749del (p.Val917fs) rs2142853029
NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs) rs2142850930
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.495G>A (p.Met165Ile) rs1555338758
NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys) rs138110910
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly) rs755706526
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly) rs758340382
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000342.4(SLC4A1):c.37G>T (p.Glu13Ter) rs2144625139
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His) rs1810212221
NM_000458.4(HNF1B):c.544+1G>A
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr) rs121964890
NM_000490.5(AVP):c.346T>G (p.Cys116Gly) rs74315383
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000789.4(ACE):c.2673_2674dup (p.Tyr892fs) rs2030333357
NM_000789.4(ACE):c.870G>A (p.Trp290Ter) rs2147530850
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_001003841.3(SLC6A19):c.1173+2T>G rs142979576
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.2357+4A>C rs1064793905
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter) rs2151792322
NM_001009944.3(PKD1):c.7120A>T (p.Lys2374Ter) rs2151776957
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter) rs2151772321
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.579-2A>G rs112111568
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr) rs104895227
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter) rs1559496157
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) rs1568303352
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter) rs2149360884
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn) rs1927758267
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter) rs2131006757
NM_001267550.2(TTN):c.103132C>T (p.Gln34378Ter) rs2154135182
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001267550.2(TTN):c.53918del (p.Gly17973fs) rs1486129583
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter) rs865930770
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter) rs748619096
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter) rs2154166071
NM_001267550.2(TTN):c.80530del (p.Ser26844fs) rs2154164929
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer) rs2154161683
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter) rs2154159874
NM_001267550.2(TTN):c.85809del (p.Lys28603fs) rs796983799
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs) rs1415420768
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.98990-1G>T rs796111471
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter) rs1275844963
NM_001370259.2(MEN1):c.1052A>G (p.Tyr351Cys) rs2136111524
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001378454.1(ALMS1):c.3197_3200del (p.Asp1066fs) rs2103777977
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.4456+1G>A rs1318885805
NM_001555.5(IGSF1):c.1966G>A (p.Gly656Arg) rs2124097454
NM_001692.4(ATP6V1B1):c.175-1G>C rs1572919267
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_003000.3(SDHB):c.200+1G>A rs2101541309
NM_003000.3(SDHB):c.490C>T (p.Gln164Ter) rs1553177679
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) rs80338846
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004177.5(STX3):c.739C>T (p.Arg247Ter) rs575668968
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) rs778141083
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.3054_3055del (p.Ser1018fs) rs2113690064
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs) rs796620239
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter) rs121908568
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005159.5(ACTC1):c.811A>G (p.Met271Val) rs2140429730
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005559.4(LAMA1):c.842G>A (p.Trp281Ter) rs2144193240
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter) rs1480105908
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter) rs895704914
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) rs1435358988
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) rs2146153237
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs) rs80357576
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter) rs80357427
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.4(BRCA1):c.4699G>T (p.Gly1567Ter) rs568753972
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_018486.3(HDAC8):c.738-1G>A rs1602975601
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020751.3(COG6):c.1646G>T (p.Gly549Val) rs387906959
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) rs377767397
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_022336.4(EDAR):c.964-1G>C rs2105390253
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) rs1555457841
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter) rs2137711618
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys) rs1234227647
NM_031443.4(CCM2):c.236_237del (p.Tyr79fs) rs2128747325
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1525G>T (p.Gly509Cys) rs754223700
NM_130797.4(DPP6):c.244-141059C>T rs606231226
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_145207.3(AFG2A):c.1677C>A (p.Tyr559Ter) rs139834687
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_194454.3(KRIT1):c.1166del (p.Gly389fs) rs2131511467
NM_194454.3(KRIT1):c.1287del (p.Ser430fs) rs2131454847
NM_194454.3(KRIT1):c.1412-1G>C rs1554513070
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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