ClinVar Miner

List of variants reported as likely pathogenic by Genetics and Molecular Pathology, SA Pathology

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ClinVar version:
Total variants: 444
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00039
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter) rs370835731 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000146.4(FTL):c.89C>T (p.Thr30Ile) rs397514540 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg) rs764509824 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) rs763252801 0.00001
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn) rs371811409 0.00001
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter) rs758871406 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) rs2139065803
NM_000020.3(ACVRL1):c.625+1G>A
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) rs63749805
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter) rs1272438892
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000053.4(ATP7B):c.2730+2T>A rs2139201007
NM_000059.4(BRCA2):c.2980del (p.Ala994fs) rs2137491867
NM_000059.4(BRCA2):c.6750_6751insACACA (p.His2251fs) rs2137530365
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)
NM_000090.4(COL3A1):c.636+1G>T
NM_000112.4(SLC26A2):c.-26+1G>A
NM_000127.3(EXT1):c.1884-3C>G rs2129694265
NM_000128.4(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.485+1G>T
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) rs1603432913
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) rs2123993600
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.967G>A (p.Gly323Arg) rs2124109849
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000138.5(FBN1):c.1415dup (p.Tyr472Ter)
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val) rs1284769637
NM_000143.4(FH):c.1064A>T (p.Glu355Val)
NM_000159.4(GCDH):c.541G>A (p.Glu181Lys) rs745852738
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000179.3(MSH6):c.2943dup (p.Pro982fs) rs2104432135
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr) rs1370999216
NM_000193.4(SHH):c.431G>A (p.Arg144His)
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000237.3(LPL):c.867C>A (p.Tyr289Ter)
NM_000249.4(MLH1):c.1589_1597del (p.Phe530_Gly532del)
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del) rs786201988
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000251.3(MSH2):c.209C>T (p.Ala70Val) rs587782481
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)
NM_000257.4(MYH7):c.1315A>G (p.Met439Val) rs370310929
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.983A>G (p.Glu328Gly)
NM_000258.3(MYL3):c.447G>T (p.Met149Ile) rs730880162
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
NM_000317.3(PTS):c.351C>A (p.Asn117Lys) rs2135410460
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser) rs1949430890
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro) rs2126915354
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His) rs2126917690
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro) rs764040146
NM_000365.6(TPI1):c.544-1G>C rs2138094606
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr) rs121908864
NM_000372.5(TYR):c.1493del (p.Leu498fs) rs763648121
NM_000374.5(UROD):c.725del (p.Lys242fs)
NM_000388.4(CASR):c.190A>G (p.Asn64Asp) rs2107627423
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn) rs2107650645
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000392.5(ABCC2):c.3614+1G>C rs2133124899
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val) rs1554401811
NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)
NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser) rs1554442015
NM_000478.6(ALPL):c.568_570del (p.Asn190del) rs1644529451
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
NM_000496.3(CRYBB2):c.427T>C (p.Ser143Pro)
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg) rs2128948223
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) rs2146289554
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000531.6(OTC):c.717G>T (p.Glu239Asp)
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000539.3(RHO):c.553T>C (p.Cys185Arg) rs1236550448
NM_000545.8(HNF1A):c.404del (p.Asp135fs) rs2135832632
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter) rs2135839643
NM_000546.6(TP53):c.454C>T (p.Pro152Ser) rs767328513
NM_000546.6(TP53):c.695T>A (p.Ile232Asn) rs587781589
NM_000546.6(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) rs1596288578
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp) rs2136412846
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.3259del (p.Asp1087fs) rs2136405082
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val) rs796052570
NM_000875.5(IGF1R):c.2T>A (p.Met1Lys)
NM_000969.5(RPL5):c.3+1G>A
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met) rs2125500407
NM_001005273.3(CHD3):c.2912A>C (p.Asp971Ala)
NM_001005273.3(CHD3):c.4043A>C (p.Asn1348Thr)
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.853del (p.Ser285fs)
NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) rs782121971
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001114753.3(ENG):c.111del (p.Glu38fs)
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) rs2152742282
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
NM_001142864.4(PIEZO1):c.1297-1G>A rs1905219617
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter) rs2139506946
NM_001174096.2(ZEB1):c.688-1G>A rs2139622959
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs) rs2056249919
NM_001267550.2(TTN):c.62810_62813dup (p.Arg20939fs)
NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs) rs1703415128
NM_001273.5(CHD4):c.1117T>C (p.Cys373Arg)
NM_001277115.2(DNAH11):c.13130C>T (p.Ser4377Phe)
NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs)
NM_001303052.2(MYT1L):c.2519_2520+3del
NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)
NM_001321075.3(DLG4):c.642G>A (p.Ala214=) rs2142883774
NM_001348800.3(ZBTB20):c.1431dup (p.Arg478fs)
NM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr) rs2106869182
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.445+1G>T
NM_001372.4(DNAH9):c.2021del (p.Ser674fs)
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter) rs2114014460
NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter)
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)
NM_001393769.1(MED12L):c.2221C>T (p.Gln741Ter) rs1724263784
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001609.4(ACADSB):c.824del (p.Ile275fs) rs2133484638
NM_001615.4(ACTG2):c.593G>T (p.Gly198Val)
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
NM_001844.5(COL2A1):c.2748CCCTGGTCC[3] (p.Pro922_Ser923insProGlyPro) rs2136528419
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)
NM_001851.6(COL9A1):c.1450-1G>T
NM_001854.4(COL11A1):c.3276+1G>C rs2101406339
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg) rs2146345102
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)
NM_002547.3(OPHN1):c.702+4A>T rs2147481894
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg) rs2145937134
NM_003079.5(SMARCE1):c.585_586delinsA (p.Phe196fs)
NM_003079.5(SMARCE1):c.683_685delinsT (p.Lys228fs)
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter)
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup) rs879253796
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2353-1G>A
NM_004183.4(BEST1):c.1622del (p.Leu541fs) rs1942209287
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs) rs2146915836
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met) rs781402078
NM_004247.4(EFTUD2):c.702+2T>C
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524
NM_004360.5(CDH1):c.1215del (p.Asn405fs) rs2152133449
NM_004360.5(CDH1):c.754dup (p.Val252fs) rs2152131075
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) rs2145258824
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004444.5(EPHB4):c.2420G>A (p.Gly807Glu) rs2116416678
NM_004456.5(EZH2):c.235G>A (p.Gly79Arg)
NM_004484.4(GPC3):c.1413+1G>C rs2124401754
NM_004656.4(BAP1):c.437G>C (p.Arg146Thr) rs1705201387
NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_005157.6(ABL1):c.1511A>G (p.Asp504Gly)
NM_005208.5(CRYBA1):c.501-2_522del
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005592.4(MUSK):c.790_791delinsTGC (p.Arg264fs)
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr) rs2146543631
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.525-1G>A rs2151505158
NM_006147.4(IRF6):c.696C>A (p.Tyr232Ter) rs2102537180
NM_006214.4(PHYH):c.811del (p.Thr271fs) rs2131634446
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006260.5(DNAJC3):c.1305del (p.Glu436fs)
NM_006265.3(RAD21):c.548T>G (p.Leu183Ter)
NM_006408.4(AGR2):c.256+2T>C
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter) rs2145927881
NM_006662.3(SRCAP):c.3738dup (p.Gln1247fs)
NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)
NM_006767.4(LZTR1):c.1353+1G>T
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg) rs1440693988
NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007294.4(BRCA1):c.2133del (p.Lys711fs)
NM_007294.4(BRCA1):c.4185+1G>T rs80358076
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) rs1554770589
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012154.5(AGO2):c.1619T>C (p.Leu540Pro)
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter) rs2136088954
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro) rs781584370
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys) rs2151701503
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr) rs1259983553
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014423.4(AFF4):c.778A>G (p.Met260Val) rs2150098305
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_014915.3(ANKRD26):c.-134G>A rs863223318
NM_014946.4(SPAST):c.1616+1G>A rs1553319327
NM_015046.7(SETX):c.1011-2A>G
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter) rs2140214976
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly)
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser) rs2150750132
NM_017950.4(CCDC40):c.2257dup (p.Glu753fs) rs2143748349
NM_017950.4(CCDC40):c.3092_3093dup (p.Glu1032Ter) rs2143781646
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)
NM_019032.6(ADAMTSL4):c.2493del (p.Ser832fs) rs763535661
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe)
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) rs749980819
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1030G>C (p.Asp344His)
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_022437.3(ABCG8):c.562-1G>A rs1317214046
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg) rs1759551453
NM_024426.6(WT1):c.410del (p.Pro137fs)
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.3418del (p.Trp1140fs) rs2142254289
NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu) rs121434498
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032119.4(ADGRV1):c.10974+1G>A rs1754560628
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter) rs2127784434
NM_032208.3(ANTXR1):c.1434+1G>A
NM_032217.5(ANKRD17):c.1887del (p.Gly630fs)
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_032271.3(TRAF7):c.1783C>G (p.Leu595Val) rs2141298490
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro) rs766510741
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) rs2131029946
NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs) rs2147797210
NM_033380.3(COL4A5):c.834+1G>T
NM_057175.5(NAA15):c.779del (p.Tyr260fs) rs2110930242
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp) rs750864821
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs) rs1804782152
NM_153676.4(USH1C):c.387+1G>A
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)
NM_170707.4(LMNA):c.324del (p.Val109fs)
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.827-1G>A rs2146467548
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter) rs1588999386
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter) rs758379604
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter) rs2090447154
NM_182961.4(SYNE1):c.2624del (p.Gly875fs)
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198334.3(GANAB):c.1429T>C (p.Tyr477His)
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) rs2102451648

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