ClinVar Miner

List of variants reported as pathogenic by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 563
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
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_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
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_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_024006.6(VKORC1):c.196G>A (p.Val66Met) rs72547529 0.00086
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677 0.00068
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) rs374514431 0.00012
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00012
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg) rs137853134 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs) rs751050956 0.00005
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00005
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001126121.2(SLC25A19):c.775-1G>C rs372041843 0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) rs1191239079 0.00003
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg) rs748940147 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_002635.4(SLC25A3):c.158-303A>G rs745305932 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter) rs886041186 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001198800.3(ASCC1):c.626+1G>A rs747595523 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001555.5(IGSF1):c.3790C>T (p.Arg1264Ter) rs1309588455 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NM_003560.4(PLA2G6):c.2035-2A>G rs1602057157 0.00001
NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter) rs144659252 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter) rs773790897 0.00001
NM_006208.3(ENPP1):c.1068G>A (p.Trp356Ter) rs756541266 0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) rs754659608 0.00001
NM_006565.4(CTCF):c.1103G>A (p.Arg368His) rs1259610303 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_007198.4(PLPBP):c.320-2A>G rs1057519424 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) rs746333044 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1
NM_000038.6(APC):c.5101C>T (p.Gln1701Ter) rs1561597691
NM_000043.6(FAS):c.657_658del (p.Val220fs) rs1589488494
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs) rs80359284
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.4947_4948del (p.Pro1651fs) rs80359474
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5410_5411del (p.Val1804fs) rs80359512
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000061.3(BTK):c.726dup (p.Ile243fs) rs1569292774
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000168.6(GLI3):c.3224del (p.Leu1075fs)
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
NM_000214.3(JAG1):c.514C>T (p.Gln172Ter)
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) rs28933383
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) rs199472708
NM_000238.4(KCNH2):c.746del (p.Pro249fs)
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.63+1G>T rs587783843
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) rs2095877685
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000264.5(PTCH1):c.1348-1G>A rs1841170844
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.99_100del (p.Ala34fs) rs2059233076
NM_000278.5(PAX2):c.310C>T (p.Arg104Ter) rs922533851
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs) rs2063232292
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136
NM_000346.4(SOX9):c.196G>T (p.Glu66Ter) rs759597531
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000360.4(TH):c.448C>T (p.Gln150Ter) rs1590169710
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs) rs762914474
NM_000392.5(ABCC2):c.3851G>A (p.Trp1284Ter) rs1590192032
NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) rs137852322
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) rs797046091
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000475.5(NR0B1):c.1169-1G>T
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) rs387907201
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.437C>A (p.Ser146Ter)
NM_000531.6(OTC):c.604C>T (p.His202Tyr) rs72558408
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter) rs193922887
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000548.5(TSC2):c.935_936del (p.Leu312fs) rs1596288988
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000969.5(RPL5):c.692dup (p.Thr232fs) rs1571032029
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001009944.3(PKD1):c.8791+1G>A rs2092177236
NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter) rs137853598
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs) rs1592831898
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile) rs1697221269
NM_001042424.3(NSD2):c.1641_1642del (p.Arg548fs)
NM_001042424.3(NSD2):c.367G>T (p.Glu123Ter)
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA rs1559406508
NM_001079668.3(NKX2-1):c.989_1016dup (p.Ala341fs)
NM_001080517.3(SETD5):c.891dup (p.Ile298fs)
NM_001083961.2(WDR62):c.2864_2867del (p.Asp955fs) rs757827840
NM_001100.4(ACTA1):c.489C>A (p.His163Gln) rs1571893383
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127392.3(MYRF):c.2956C>T (p.Arg986Ter)
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001164508.2(NEB):c.10872+1G>A rs1336053002
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs) rs1575024425
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.7956+1G>A rs2098919015
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter) rs1577253760
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) rs796053099
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001166345.3(MDFIC):c.391dup (p.Met131fs) rs562142736
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) rs1569314471
NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs)
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter) rs746994660
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001267550.2(TTN):c.52524del (p.Lys17508fs)
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter) rs1556341546
NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs) rs1602928108
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) rs912069418
NM_001320.7(CSNK2B):c.367+1G>A rs2151188416
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)
NM_001349798.2(FBXW7):c.1855+1G>C
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_001365902.3(NFIX):c.933_943del (p.Trp312fs) rs1599848690
NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?) rs1592348310
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001374828.1(ARID1B):c.5916del (p.Pro1972_Leu1973insTer)
NM_001375380.1(EBF3):c.163G>T (p.Glu55Ter) rs1589974634
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs) rs775168204
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001451.3(FOXF1):c.1070_1080del (p.His357fs)
NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs) rs1597291554
NM_001451.3(FOXF1):c.797C>A (p.Ser266Ter)
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) rs1057519478
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) rs886039303
NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp) rs864309492
NM_001710.6(CFB):c.856T>C (p.Phe286Leu)
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) rs1592202517
NM_001854.4(COL11A1):c.2808+2del
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001940.4(ATN1):c.3172C>T (p.His1058Tyr) rs1555144358
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter) rs745516434
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002107.7(H3-3A):c.365C>G (p.Pro122Arg) rs1576203003
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714
NM_002185.5(IL7R):c.437_438del (p.Phe146fs) rs1561423197
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter) rs766555082
NM_002397.5(MEF2C):c.19C>T (p.Gln7Ter)
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_003036.4(SKI):c.91T>C (p.Ser31Pro) rs1569656981
NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu) rs1822649338
NM_003073.5(SMARCB1):c.351del (p.Thr118fs) rs1555876140
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.4(KMT2D):c.1336del (p.Glu446fs)
NM_003482.4(KMT2D):c.14753del (p.Pro4918fs) rs1592106879
NM_003482.4(KMT2D):c.16522-5_16522-2del rs2137703007
NM_003482.4(KMT2D):c.2871dup (p.Glu958fs)
NM_003482.4(KMT2D):c.3968dup (p.Gly1323_Arg1324insTer) rs1592150075
NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter) rs1592139221
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003919.3(SGCE):c.619del (p.Arg207fs) rs1554352819
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup) rs757020181
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup) rs17879189
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter) rs984314526
NM_004380.3(CREBBP):c.4944del (p.Ile1649fs)
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.7642C>T (p.Arg2548Ter) rs146296069
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2354G>A (p.Arg785Gln)
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_005251.3(FOXC2):c.908_923dup (p.Pro309fs)
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005660.3(SLC35A2):c.696G>A (p.Trp232Ter) rs868941656
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) rs587776961
NM_005677.4(COLQ):c.893del (p.Asn298fs) rs2125089093
NM_005859.5(PURA):c.424dup (p.Ala142fs) rs1581036383
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005901.6(SMAD2):c.997+1G>T
NM_006009.4(TUBA1A):c.352G>C (p.Val118Leu) rs863224938
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter) rs2081053546
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter) rs2081169212
NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter) rs530073586
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006565.4(CTCF):c.778_781del (p.Lys260fs) rs2052063931
NM_006766.5(KAT6A):c.1903-5_1903-2del rs1587727050
NM_006767.4(LZTR1):c.401-1G>A
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs) rs755595256
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007363.5(NONO):c.731dup (p.Asn244fs) rs1555950011
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_012330.4(KAT6B):c.3378_3381del (p.Phe1127fs)
NM_012330.4(KAT6B):c.4453dup (p.Cys1485fs)
NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter) rs369027010
NM_013275.6(ANKRD11):c.1616_1617del (p.Thr539fs)
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_014009.4(FOXP3):c.-23+1G>T rs1602693008
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)
NM_014112.5(TRPS1):c.2666del (p.Asn889fs) rs1586430715
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014239.4(EIF2B2):c.42del (p.Ile15fs) rs1889561523
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg) rs121908536
NM_014425.5(INVS):c.325C>T (p.Gln109Ter)
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.656del (p.Gly219fs) rs1573721242
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015338.6(ASXL1):c.2324T>G (p.Leu775Ter)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017780.4(CHD7):c.2881del (p.Glu961fs) rs2150749363
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) rs1586453824
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.807del (p.Ala270fs) rs1586249559
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) rs1589152355
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) rs397515415
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_019066.5(MAGEL2):c.188dup (p.Ala64fs) rs1595334203
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020778.5(ALPK3):c.4313C>A (p.Ser1438Ter)
NM_020791.4(TAOK1):c.204+1G>A
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020964.3(EPG5):c.2066del (p.Phe688_Leu689insTer) rs2050617604
NM_020964.3(EPG5):c.5659_5660del (p.Asp1887fs) rs2049058963
NM_020975.6(RET):c.712G>T (p.Glu238Ter) rs1588866040
NM_020975.6(RET):c.971G>A (p.Trp324Ter)
NM_022114.4(PRDM16):c.213del (p.Val72fs) rs1569798933
NM_022369.4(STRA6):c.1301-6T>A rs1367215268
NM_022369.4(STRA6):c.347del (p.Leu116fs) rs2073803030
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024426.6(WT1):c.1354+2T>C
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) rs750665609
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter) rs1204482456
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032271.3(TRAF7):c.1673C>T (p.Ser558Phe) rs2141297268
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter) rs1031314447
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_057175.5(NAA15):c.1087+2T>G rs1747866049
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_130837.3(OPA1):c.556+1G>A rs1577162868
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter)
NM_133433.4(NIPBL):c.2291del (p.Asn764fs) rs1580396767
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_138387.4(G6PC3):c.199_218+1del rs1597905369
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_152641.4(ARID2):c.1121-1G>A rs1943242602
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter) rs1057518650
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_172107.4(KCNQ2):c.1681C>T (p.Pro561Ser) rs2145542063
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.830C>T (p.Thr277Ile)
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_182641.4(BPTF):c.8262-2A>G rs1057518354
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182931.3(KMT2E):c.2107G>T (p.Glu703Ter) rs1798679896
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)
NM_206538.4(EMC10):c.287del (p.Gly96fs) rs770255014
NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs) rs2061224553
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.