ClinVar Miner

List of variants reported as pathogenic for not provided by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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ClinVar version:
Total variants: 363
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
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_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) rs61758444 0.00011
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs) rs751845138 0.00009
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250 0.00007
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_014874.4(MFN2):c.647T>C (p.Phe216Ser) rs387906990 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) rs757966746 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424 0.00002
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725 0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_001017995.3(SH3PXD2B):c.250C>T (p.Arg84Ter) rs61755907 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter) rs878853036 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003124.5(SPR):c.655C>T (p.Arg219Ter) rs779204655 0.00001
NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) rs199422224 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_015909.4(NBAS):c.5741G>A (p.Arg1914His) rs369698072 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) rs878853009 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ND1):m.1555A>G rs267606617
NC_012920.1(MT-ND3):m.10158T>C rs199476117
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-TE):m.14674T>C rs387906421
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000016.6(ACADM):c.849+1G>A rs878853106
NM_000044.6(AR):c.1804T>G (p.Cys602Gly) rs878853033
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000052.7(ATP7A):c.2867G>A (p.Trp956Ter) rs67273048
NM_000054.7(AVPR2):c.392T>C (p.Leu131Pro) rs878853079
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) rs767271426
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly) rs1057520131
NM_000138.5(FBN1):c.2964_2971del (p.Trp988_Glu991delinsTer) rs878853095
NM_000138.5(FBN1):c.3563C>A (p.Ser1188Ter) rs1057520181
NM_000138.5(FBN1):c.8520_8523del (p.Lys2840fs) rs1555393513
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000162.5(GCK):c.171G>T (p.Met57Ile) rs1057520109
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000206.3(IL2RG):c.258_261dup (p.His88fs) rs1556330940
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000214.3(JAG1):c.387+2T>C rs1555830919
NM_000217.3(KCNA1):c.724G>C (p.Ala242Pro) rs28933381
NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del) rs878853108
NM_000264.5(PTCH1):c.1615del (p.Glu539fs) rs878853847
NM_000273.3(GPR143):c.2T>C (p.Met1Thr) rs1057520200
NM_000276.4(OCRL):c.1095del (p.His365fs) rs1057520078
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000314.8(PTEN):c.254-1G>A rs1057520208
NM_000314.8(PTEN):c.531T>G (p.Tyr177Ter) rs878853012
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000498.3(CYP11B2):c.1350C>A (p.Cys450Ter) rs878852988
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_001039591.3(USP9X):c.5395C>T (p.Arg1799Ter) rs1555933937
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001042492.3(NF1):c.6912_6916del (p.Leu2304_Leu2305insTer) rs878853025
NM_001079802.2(FKTN):c.369+1G>T rs764125009
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer) rs1057520154
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001174147.2(LMX1B):c.285_289del (p.Tyr95_Arg97delinsTer) rs1057520178
NM_001197104.2(KMT2A):c.11230C>T (p.Arg3744Ter) rs1057520053
NM_001267550.2(TTN):c.50048T>A (p.Ile16683Asn) rs1057520148
NM_001270508.2(TNFAIP3):c.727T>C (p.Cys243Arg) rs1554225021
NM_001278116.2(L1CAM):c.992-2A>G rs878853099
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr) rs878852989
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.848A>T (p.Asp283Val) rs1557230040
NM_001363.5(DKC1):c.1345C>G (p.Arg449Gly) rs878853071
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001377.3(DYNC2H1):c.11650-1G>A rs878852996
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001673.5(ASNS):c.478del (p.Glu160fs) rs797045307
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001844.5(COL2A1):c.2492G>T (p.Gly831Val) rs1555166013
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del) rs878852993
NM_002641.4(PIGA):c.68dup (p.Ser24fs) rs879255543
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.1845dup (p.Pro616fs) rs1555197320
NM_003482.4(KMT2D):c.8841_8844del (p.His2947fs) rs1555190924
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter) rs886043113
NM_004380.3(CREBBP):c.3341del (p.Pro1114fs) rs1057520072
NM_004429.5(EFNB1):c.101_114dup (p.Ser39fs) rs879255545
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) rs878853006
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006015.6(ARID1A):c.1207C>T (p.Gln403Ter) rs878853088
NM_006147.4(IRF6):c.1221_1230del (p.Gly408fs) rs1057520168
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_013296.5(GPSM2):c.1473del (p.Phe492fs) rs772372530
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014795.4(ZEB2):c.1115del (p.Lys372fs) rs878853016
NM_014795.4(ZEB2):c.73+1del rs786204813
NM_015330.6(SPECC1L):c.3293G>A (p.Arg1098Gln) rs1555874726
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015909.4(NBAS):c.2167C>T (p.Gln723Ter) rs1278049478
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020699.4(GATAD2B):c.655C>T (p.Gln219Ter) rs1553188335
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020822.3(KCNT1):c.808C>G (p.Gln270Glu) rs1554771476
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_022114.4(PRDM16):c.827del (p.Gly276fs) rs1057520188
NM_022168.4(IFIH1):c.1328A>G (p.Asp443Gly) rs878853066
NM_022356.4(P3H1):c.1102C>T (p.Arg368Ter) rs118203996
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) rs869025670
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024665.7(TBL1XR1):c.1336T>G (p.Tyr446Asp) rs1553808301
NM_031443.4(CCM2):c.122del (p.Pro41fs) rs1057520070
NM_031844.3(HNRNPU):c.628dup (p.Ala210fs) rs1057520065
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_033380.3(COL4A5):c.1339+1G>A rs878853114
NM_033380.3(COL4A5):c.2031_2038del (p.Gly678fs) rs878853017
NM_033380.3(COL4A5):c.4549del (p.Arg1517fs) rs878853030
NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) rs1555399937
NM_134261.3(RORA):c.1498C>T (p.Arg500Ter) rs1555421544
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_176787.5(PIGN):c.181G>T (p.Glu61Ter) rs200199765
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_181486.4(TBX5):c.456del (p.Val153fs) rs1057520136
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly) rs754621494
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_207037.2(TCF12):c.1490_1491dup (p.Val498fs) rs1057520132

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