ClinVar Miner

List of variants reported as uncertain significance by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 469
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HGVS dbSNP gnomAD frequency
NM_014801.4(PCNX2):c.3526C>T (p.His1176Tyr) rs188041996 0.00224
NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser) rs575635539 0.00166
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) rs147499593 0.00144
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926 0.00066
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_201378.4(PLEC):c.71-11866G>A rs199505812 0.00054
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr) rs201876836 0.00048
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00029
NM_000484.4(APP):c.742G>A (p.Asp248Asn) rs200103591 0.00028
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00026
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_025233.7(COASY):c.1064C>T (p.Pro355Leu) rs373975726 0.00016
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_001110.4(ADAM10):c.359T>C (p.Ile120Thr) rs144890810 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_001040192.3(DNAJC28):c.502G>T (p.Glu168Ter) rs147358478 0.00008
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys) rs148582147 0.00007
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00006
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His) rs964725459 0.00006
NM_001360.3(DHCR7):c.-146C>T rs903720947 0.00006
NM_003401.5(XRCC4):c.640G>A (p.Glu214Lys) rs746407658 0.00006
NM_017799.4(TMEM260):c.377C>T (p.Ala126Val) rs1447833652 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter) rs748668786 0.00005
NM_005371.6(METTL1):c.326G>A (p.Arg109Gln) rs768213849 0.00005
NM_024870.4(PREX2):c.428G>A (p.Arg143Gln) rs745857499 0.00005
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp) rs746691776 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000113.3(TOR1A):c.719T>C (p.Leu240Ser) rs377358943 0.00004
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu) rs754163400 0.00004
NM_001172560.3(SSTR5):c.293C>T (p.Thr98Met) rs761743016 0.00004
NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr) rs755836698 0.00004
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_006828.4(ASCC3):c.2763del (p.Leu922fs) rs1462303140 0.00004
NM_006828.4(ASCC3):c.281C>T (p.Ala94Val) rs143119831 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_001145648.3(RASGRF1):c.1523G>T (p.Gly508Val) rs148722229 0.00003
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) rs74361335 0.00003
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_007289.4(MME):c.1904G>A (p.Gly635Asp) rs151302020 0.00003
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu) rs1471934686 0.00002
NM_001145118.2(GRID2IP):c.429+2T>G rs1413118387 0.00002
NM_001360.3(DHCR7):c.99-16G>A rs993275449 0.00002
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001605.3(AARS1):c.618G>T (p.Gln206His) rs139785247 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_005085.4(NUP214):c.3344C>T (p.Thr1115Met) rs377273494 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) rs142318626 0.00002
NM_024105.4(ALG12):c.470-3C>T rs751546611 0.00002
NM_133178.4(PTPRU):c.3649G>C (p.Gly1217Arg) rs80083765 0.00002
NM_201599.3(ZMYM3):c.3371G>A (p.Arg1124Gln) rs761267440 0.00002
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) rs780415133 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_001012279.3(SOGA3):c.2289C>G (p.Asp763Glu) rs1583082725 0.00001
NM_001080517.3(SETD5):c.538C>T (p.Arg180Cys) rs753185558 0.00001
NM_001145648.3(RASGRF1):c.604G>A (p.Asp202Asn) rs769851165 0.00001
NM_001171613.2(PREPL):c.1244T>C (p.Leu415Ser) rs1430753619 0.00001
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) rs199927859 0.00001
NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter) rs1484841139 0.00001
NM_001256627.2(BRSK2):c.1861C>T (p.Arg621Cys) rs1198947199 0.00001
NM_001282874.2(SMARCA1):c.2161G>A (p.Asp721Asn) rs766401027 0.00001
NM_001369268.1(ACAN):c.955G>A (p.Gly319Ser) rs1044441746 0.00001
NM_001371072.1(USP11):c.2420G>A (p.Arg807Gln) rs2055439072 0.00001
NM_001666.5(ARHGAP4):c.926T>G (p.Val309Gly) rs1293728849 0.00001
NM_002161.6(IARS1):c.1622C>T (p.Pro541Leu) rs1286974333 0.00001
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn) rs1242600175 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys) rs954500638 0.00001
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro) rs1377506801 0.00001
NM_005371.6(METTL1):c.370C>T (p.Arg124Cys) rs755626987 0.00001
NM_006421.5(ARFGEF1):c.2650A>G (p.Met884Val) rs1490604083 0.00001
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017 0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) rs1302959508 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_014044.7(UNC50):c.360A>G (p.Ile120Met) rs750243321 0.00001
NM_014619.5(GRIK4):c.1856G>A (p.Arg619His) rs534517447 0.00001
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln) rs869312679 0.00001
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) rs1131692281 0.00001
NM_017780.4(CHD7):c.5404+5G>A rs1255859560 0.00001
NM_020549.5(CHAT):c.1211C>T (p.Ala404Val) rs192592698 0.00001
NM_021930.6(RINT1):c.1285C>A (p.Leu429Ile) rs1790880304 0.00001
NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys) rs769419803 0.00001
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) rs782119109 0.00001
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala) rs759782468 0.00001
NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile) rs1338086129 0.00001
NM_182961.4(SYNE1):c.26152A>G (p.Arg8718Gly) rs151281204 0.00001
NM_201378.4(PLEC):c.71-11602G>A rs374484619 0.00001
GRCh37/hg19 10q21.3(chr10:66337001-67764000)x3
GRCh37/hg19 15q13.1-13.2(chr15:28940039-30366124)x3
GRCh37/hg19 15q26.3(chr15:99389874-99438394)x1
GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3
GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3
GRCh37/hg19 16p13.3(chr16:96766-137939)x1
GRCh37/hg19 17p11.2(chr17:17104302-17690077)x3
GRCh37/hg19 17p12(chr17:14111754-15442178)x3
GRCh37/hg19 17p12(chr17:15027001-15183000)x3
GRCh37/hg19 17p13.1(chr17:7411849-7413057)x1
GRCh37/hg19 17p13.3(chr17:1479954-1585094)x1
GRCh37/hg19 17q23.1(chr17:57664487-57682800)x1
GRCh37/hg19 18p11.32(chr18:10001-1322185)
GRCh37/hg19 19q12(chr19:30928351-30935204)x1
GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3
GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3
GRCh37/hg19 1q43(chr1:237219730-238406325)x1
GRCh37/hg19 1q44(chr1:245476101-246429005)x3
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3
GRCh37/hg19 3p26.3(chr3:227001-2211981)
GRCh37/hg19 4q35.2(chr4:188898012-190542602)x1
GRCh37/hg19 5p14.3(chr5:19101001-20164000)x3
GRCh37/hg19 6q21(chr6:109796301-113083437)x3
GRCh37/hg19 6q22.1-22.31(chr6:117951874-119112156)x1
GRCh37/hg19 7p21.2(chr7:13998001-15227144)x3
GRCh37/hg19 7q11.21(chr7:62495083-64927758)x1
GRCh37/hg19 8p22(chr8:15721096-16208574)x3
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1
GRCh37/hg19 Xp22.12(chrX:20007752-20498564)x0
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2
GRCh37/hg19 Xp22.33(chrX:480367-862460)x3
GRCh37/hg19 Xq13.1(chrX:70386654-70743623)x2
GRCh37/hg19 Xq21.1(chrX:79979500-81247449)x2
NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg)
NM_000113.3(TOR1A):c.949A>T (p.Lys317Ter) rs1564181992
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.758A>G (p.Asp253Gly) rs2128741235
NM_000207.2(INS):c.-187_-164del rs1135401727
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)
NM_000216.4(ANOS1):c.1354+1del rs764687970
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
NM_000257.4(MYH7):c.1217_1218del (p.Val406fs) rs1892824277
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met) rs1348730180
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile) rs2147180753
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000381.4(MID1):c.1495G>A (p.Val499Met) rs868016081
NM_000466.3(PEX1):c.1966C>T (p.Pro656Ser)
NM_000484.4(APP):c.1090C>T (p.Leu364Phe) rs749453173
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.1925+1G>C rs1967488222
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)
NM_000924.4(PDE1B):c.735+5G>A
NM_000937.5(POLR2A):c.1166C>G (p.Thr389Ser) rs1597795846
NM_001005273.3(CHD3):c.4280G>A (p.Trp1427Ter) rs1555613750
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001007157.2(PHF14):c.964T>G (p.Cys322Gly) rs2128310303
NM_001009999.3(KDM1A):c.1720A>G (p.Lys574Glu) rs1553131717
NM_001012426.2(FOXP4):c.193del (p.Gln65fs) rs1562018111
NM_001024383.2(NAV3):c.4600T>G (p.Ser1534Ala)
NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)
NM_001035.3(RYR2):c.2139G>A (p.Trp713Ter) rs2150449007
NM_001037442.4(RUFY3):c.764dup (p.Gln256fs) rs869312879
NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)
NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser) rs1940729976
NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter) rs1468332923
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly) rs2063039248
NM_001040142.2(SCN2A):c.3399+3359C>A
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042603.3(KDM5A):c.4557A>T (p.Glu1519Asp)
NM_001042681.2(RERE):c.14A>G (p.Lys5Arg) rs1553128615
NM_001047160.3(NET1):c.839A>G (p.Lys280Arg) rs869312683
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077415.3(CRELD1):c.726G>T (p.Lys242Asn) rs911089166
NM_001079559.3(HNRNPUL2):c.642C>A (p.Tyr214Ter) rs1590900583
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn) rs1556181426
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) rs869312695
NM_001101.5(ACTB):c.812C>T (p.Ser271Phe) rs1784805528
NM_001105244.2(PTPRM):c.1749A>G (p.Ile583Met) rs2090405367
NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter) rs2131466699
NM_001110556.2(FLNA):c.623-8C>A rs111542756
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser) rs1602257111
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) rs2144595037
NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu)
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter) rs2132957934
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001143854.2(RPH3A):c.1349C>G (p.Thr450Ser) rs869312710
NM_001148.6(ANK2):c.11046del (p.Gln3683fs) rs878853166
NM_001161352.2(KCNMA1):c.2594G>A (p.Arg865His) rs2152943638
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4002+2543A>G
NM_001165963.4(SCN1A):c.4003-603T>C
NM_001171876.2(MCF2):c.2462G>T (p.Gly821Val)
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
NM_001184749.3(SLITRK4):c.611G>A (p.Arg204His)
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
NM_001193511.2(MAP3K12):c.1099A>G (p.Ser367Gly)
NM_001197104.2(KMT2A):c.11587G>A (p.Gly3863Ser) rs1591311290
NM_001199013.2(STPG1):c.738-3255C>T rs1641311517
NM_001205293.3(CACNA1E):c.1580_1581delinsAA (p.Met527Lys) rs1572690989
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys) rs759093976
NM_001205293.3(CACNA1E):c.5764C>T (p.Gln1922Ter) rs1558390377
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu) rs1064795095
NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter) rs757650929
NM_001273.5(CHD4):c.2993A>T (p.Asn998Ile)
NM_001282531.3(ADNP):c.736C>T (p.Arg246Cys) rs2122760828
NM_001282874.2(SMARCA1):c.1874A>G (p.Asp625Gly) rs1934065144
NM_001282874.2(SMARCA1):c.2354A>G (p.Asn785Ser) rs1933619118
NM_001286577.2(C2CD3):c.185G>C (p.Arg62Pro) rs138748539
NM_001287491.2(TET3):c.5231G>A (p.Arg1744His)
NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter) rs2147031368
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser) rs2150159210
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu) rs2122623348
NM_001318852.2(MAPK8IP3):c.2450C>A (p.Ala817Asp) rs1555458045
NM_001326342.2(CELF2):c.289T>G (p.Phe97Val)
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr) rs1592151654
NM_001330260.2(SCN8A):c.3942+248C>G
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala) rs2045884607
NM_001330683.2(TTC3):c.5557G>A (p.Val1853Met) rs2084866145
NM_001332.4(CTNND2):c.762C>G (p.Tyr254Ter) rs1131692267
NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)
NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)
NM_001365068.1(ASTN2):c.3598+1G>A
NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln)
NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser)
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) rs2135097306
NM_001369.3(DNAH5):c.11028+5G>A rs1419129615
NM_001369268.1(ACAN):c.37del (p.Val13fs) rs1596128744
NM_001369268.1(ACAN):c.600C>G (p.Asp200Glu) rs550550807
NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr) rs1596148604
NM_001370785.2(LRRC7):c.4700T>A (p.Leu1567Gln)
NM_001372044.2(SHANK3):c.1235C>G rs869312715
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
NM_001375405.1(CEP120):c.226A>G (p.Lys76Glu) rs1311902826
NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs) rs2147793377
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala) rs2152594696
NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val) rs991713081
NM_001378328.1(CELSR1):c.8719dup (p.Asp2907fs) rs751828682
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His) rs2125214071
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001379029.1(CERT1):c.905C>A (p.Ser302Tyr) rs1417704749
NM_001379403.1(WDR26):c.1136G>A (p.Arg379Gln) rs774272467
NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn) rs1433976424
NM_001384574.2(SAMD4B):c.1569G>C (p.Trp523Cys) rs2077859510
NM_001386888.1(AFDN):c.2557_2559delinsTGA (p.Ile853Ter) rs1057519562
NM_001388485.1(LMTK3):c.189dup (p.Arg64fs) rs2147562120
NM_001394062.1(MACF1):c.11650C>T (p.Gln3884Ter) rs1553300826
NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg) rs2114834964
NM_001453.3(FOXC1):c.387C>A (p.Asn129Lys) rs751776784
NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln) rs1598546921
NM_001663.4(ARF6):c.187G>A (p.Asp63Asn) rs1594840787
NM_001664.4(RHOA):c.181G>A (p.Ala61Thr) rs1575647051
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del) rs1600810127
NM_001991.5(EZH1):c.1217G>A (p.Arg406His) rs1597832055
NM_002007.4(FGF4):c.611C>A (p.Pro204His) rs2119827064
NM_002080.4(GOT2):c.1084C>T (p.Leu362Phe)
NM_002080.4(GOT2):c.569A>T (p.Asp190Val)
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
NM_002161.6(IARS1):c.226G>A (p.Gly76Arg) rs372859203
NM_002577.4(PAK2):c.1205C>T (p.Thr402Ile) rs2108772943
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn) rs1603373843
NM_002714.4(PPP1R10):c.1295C>T (p.Ala432Val)
NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln) rs752897300
NM_002807.4(PSMD1):c.418C>T (p.Arg140Ter) rs1693924262
NM_002819.5(PTBP1):c.2T>C (p.Met1Thr) rs1599210325
NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)
NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) rs376879952
NM_003021.4(SGTA):c.823C>T (p.Gln275Ter) rs1599495454
NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly) rs869312680
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser) rs1057524313
NM_003112.5(SP4):c.90dup (p.Asn31Ter)
NM_003124.5(SPR):c.106G>A (p.Val36Met) rs869312688
NM_003345.5(UBE2I):c.428A>G (p.Glu143Gly)
NM_003401.5(XRCC4):c.356C>T (p.Pro119Leu) rs768175717
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys) rs1592110663
NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys)
NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg) rs1942485576
NM_003812.4(ADAM23):c.2268del (p.Cys757fs) rs2105852296
NM_003870.4(IQGAP1):c.3493A>G (p.Lys1165Glu) rs886039901
NM_003884.5(KAT2B):c.1754del (p.Tyr585fs) rs1553598537
NM_003898.4(SYNJ2):c.2557T>C (p.Ser853Pro) rs869312665
NM_003985.6(TNK1):c.393C>G (p.His131Gln) rs767381816
NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)
NM_004274.5(AKAP6):c.2305C>T (p.Gln769Ter) rs1213602989
NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr) rs767869932
NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys) rs1596807866
NM_004540.5(NCAM2):c.365C>T (p.Ser122Phe)
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met) rs2148650076
NM_004595.5(SMS):c.329G>A (p.Arg110Gln) rs2147513193
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr) rs2148336854
NM_004646.4(NPHS1):c.2758T>G (p.Cys920Gly)
NM_004850.5(ROCK2):c.2140C>T (p.Arg714Ter) rs869312716
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val) rs886041096
NM_004958.4(MTOR):c.505-2A>G rs869312706
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr) rs2130546358
NM_004972.4(JAK2):c.1822C>G (p.His608Asp)
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_005022.4(PFN1):c.280G>T (p.Gly94Cys)
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=) rs1463951620
NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs) rs2150860676
NM_005085.4(NUP214):c.1412C>T (p.Ser471Phe) rs776701369
NM_005245.4(FAT1):c.10513A>T (p.Arg3505Trp)
NM_005245.4(FAT1):c.11518G>A (p.Val3840Met)
NM_005246.4(FER):c.2344C>G (p.Pro782Ala) rs1582454977
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005333.5(HCCS):c.736C>T (p.Arg246Cys) rs2147254071
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_005402.4(RALA):c.526C>T (p.Arg176Ter) rs1204820978
NM_005406.3(ROCK1):c.877_878insT (p.His293fs)
NM_005428.4(VAV1):c.909del (p.Asp303fs)
NM_005816.5(CD96):c.934del (p.Asp312fs) rs1937457440
NM_005938.4(FOXO4):c.449G>A (p.Trp150Ter)
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp) rs2062710977
NM_006099.3(PIAS3):c.499C>T (p.Gln167Ter) rs1570778920
NM_006218.4(PIK3CA):c.320A>G (p.Asn107Ser) rs2108386309
NM_006225.4(PLCD1):c.631C>T (p.Arg211Trp) rs752156828
NM_006289.4(TLN1):c.2176dup (p.Thr726fs)
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr) rs1131692271
NM_006516.4(SLC2A1):c.517-1G>C rs869312673
NM_006618.5(KDM5B):c.2188_2189insC (p.Tyr730fs) rs1558488609
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter) rs869312703
NM_006659.4(TUBGCP2):c.150+5G>A
NM_006659.4(TUBGCP2):c.1552C>T (p.Arg518Cys)
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006908.5(RAC1):c.506T>G (p.Phe169Cys) rs1176320808
NM_006922.4(SCN3A):c.655A>G (p.Arg219Gly)
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) rs1341736288
NM_007118.4(TRIO):c.2957G>A (p.Arg986Gln)
NM_007118.4(TRIO):c.6092del (p.Phe2030_Leu2031insTer) rs752676391
NM_007255.3(B4GALT7):c.640-12T>A
NM_007279.3(U2AF2):c.1256G>A (p.Arg419Gln) rs1984754253
NM_007279.3(U2AF2):c.791G>A (p.Gly264Glu) rs1984686433
NM_007289.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_007332.3(TRPA1):c.2194C>G (p.Pro732Ala) rs1585851954
NM_012156.2(EPB41L1):c.1807C>T (p.Arg603Cys)
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) rs2148725999
NM_012216.4(MID2):c.448G>T (p.Ala150Ser) rs375785745
NM_012310.5(KIF4A):c.1015A>G (p.Lys339Glu) rs2147691521
NM_012433.4(SF3B1):c.415+2T>G rs2085221774
NM_013275.6(ANKRD11):c.448A>G (p.Thr150Ala)
NM_013275.6(ANKRD11):c.7404_7427del (p.Glu2468_Tyr2476delinsAsp) rs2151729090
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) rs767318278
NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)
NM_014423.4(AFF4):c.879del (p.His294fs)
NM_014458.4(KLHL20):c.1100T>C (p.Leu367Ser)
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
NM_014619.5(GRIK4):c.2713_2727delinsGCT (p.Leu905_Glu908del) rs869312699
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys) rs1347862457
NM_014681.6(DHX34):c.3160-23_3169del
NM_014681.6(DHX34):c.3260A>G (p.Glu1087Gly)
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs) rs1570178668
NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) rs563822834
NM_014801.4(PCNX2):c.4125_4126del (p.Asp1377fs) rs797046137
NM_014974.3(DIP2C):c.4045-2A>G rs2132167956
NM_014975.3(MAST1):c.210dup (p.Asn71fs) rs1380941808
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp) rs1131692269
NM_015021.3(ZNF292):c.7870C>G (p.His2624Asp) rs551397183
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val) rs1577305812
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015330.6(SPECC1L):c.2473del (p.Met825fs) rs2146521275
NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)
NM_015910.7(WDPCP):c.1780G>A (p.Ala594Thr) rs2103954230
NM_016077.5(PTRH2):c.535dup (p.Tyr179fs)
NM_016284.5(CNOT1):c.6344A>G (p.Tyr2115Cys) rs1597399182
NM_016428.3(ABI3):c.290T>A (p.Val97Glu) rs202087269
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) rs202131370
NM_016604.4(KDM3B):c.2753G>A (p.Arg918His)
NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)
NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)
NM_016734.3(PAX5):c.1013-1G>A rs1554646594
NM_017552.4(ATAD2B):c.1404dup (p.Met469fs)
NM_017629.4(AGO4):c.241C>T (p.Gln81Ter) rs1387295670
NM_017775.4(TTC19):c.424-3C>G rs1283394462
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) rs1804159058
NM_018359.5(UFSP2):c.1012G>A (p.Gly338Arg)
NM_018489.3(ASH1L):c.7421+6T>C
NM_019045.5(WDR44):c.1085T>C (p.Leu362Pro) rs1602920820
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg) rs2140716697
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020706.2(SCAF4):c.159G>T (p.Lys53Asn) rs763344051
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs) rs1131692229
NM_020821.3(VPS13C):c.1988del (p.Thr663fs) rs1019238429
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) rs1297388989
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) rs2037954227
NM_021035.3(ZNFX1):c.4880G>A (p.Arg1627His)
NM_021035.3(ZNFX1):c.872C>T (p.Thr291Met)
NM_021224.6(ZNF462):c.5680T>G (p.Cys1894Gly) rs869312691
NM_022101.4(STEEP1):c.229_230del (p.Met77fs)
NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr) rs778567340
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) rs142614610
NM_024657.5(MORC4):c.676A>G (p.Asn226Asp)
NM_024702.3(ZNF750):c.39_49del (p.His13fs)
NM_024870.4(PREX2):c.1579C>A (p.Arg527Ser) rs199776134
NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys) rs1602008532
NM_030632.3(ASXL3):c.6640T>C (p.Ser2214Pro) rs878853168
NM_030912.3(TRIM8):c.553C>T (p.Arg185Ter)
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly) rs1401359685
NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)
NM_031844.3(HNRNPU):c.914G>A (p.Arg305His) rs756460435
NM_032271.3(TRAF7):c.1510G>C (p.Asp504His) rs1596680065
NM_032538.3(TTBK1):c.367C>T (p.Arg123Ter)
NM_032634.4(PIGO):c.1352T>G (p.Met451Arg) rs1057518632
NM_032776.3(JMJD1C):c.6410A>T (p.Glu2137Val) rs369068631
NM_052867.4(NALCN):c.1675G>C (p.Val559Leu) rs758646676
NM_052876.4(NACC1):c.1406G>A (p.Arg469His) rs2145626422
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu) rs140152371
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys) rs143901995
NM_080680.3(COL11A2):c.1129_1130dup (p.Pro378fs)
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del) rs797045778
NM_133448.3(TMEM132D):c.3247G>A (p.Gly1083Arg) rs1593250509
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) rs1556046847
NM_139321.3(ATRN):c.396C>G (p.Cys132Trp)
NM_144666.3(DNHD1):c.9623G>T (p.Arg3208Met) rs1589895209
NM_145331.3(MAP3K7):c.248G>A (p.Arg83His) rs929527043
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_152221.3(CSNK1E):c.287G>T (p.Cys96Phe) rs2092680707
NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023
NM_153827.5(MINK1):c.3206T>G (p.Leu1069Arg) rs1371779157
NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)
NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)
NM_173814.6(PRTG):c.1622C>G (p.Pro541Arg) rs2141798346
NM_175854.8(PAN3):c.85del (p.Ala29fs) rs2137882227
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys) rs1085307566
NM_178014.4(TUBB):c.299A>G (p.Asn100Ser) rs2127749060
NM_181349.3(SMURF1):c.721G>A (p.Glu241Lys) rs1795770782
NM_182641.4(BPTF):c.1628G>A (p.Gly543Asp) rs1420785504
NM_182641.4(BPTF):c.2832_2843del (p.941_944NMDE[1]) rs749412697
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_183381.3(RNF13):c.875C>G (p.Ser292Ter) rs1722332295
NM_194449.4(PHLPP1):c.2302del (p.Ser768fs)
NM_194463.2(RNF128):c.917C>G (p.Pro306Arg) rs2147704423
NM_197968.4(ZMYM2):c.1193A>G (p.Gln398Arg) rs1594305253
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter) rs1952668177
NM_199141.2(CARM1):c.362A>T (p.Tyr121Phe) rs769691938
NM_207346.3(TSEN54):c.503T>G (p.Val168Gly) rs2147009566

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