ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 443
Download table as spreadsheet
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) rs113994094 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_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

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.