ClinVar Miner

List of variants reported by Daryl Scott Lab, Baylor College of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 439
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094 0.00152
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile) rs145897018 0.00129
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_001174147.2(LMX1B):c.886+18C>T rs529668402 0.00104
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala) rs199717745 0.00060
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val) rs149853330 0.00056
NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg) rs139982397 0.00056
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_001145026.2(PTPRQ):c.6568G>T (p.Ala2190Ser) rs199746225 0.00034
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00031
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg) rs116677071 0.00016
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val) rs558262843 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001286577.2(C2CD3):c.5882-332A>G rs200146492 0.00013
NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile) rs139705387 0.00012
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) rs759581394 0.00011
NM_198525.3(KIF7):c.2482G>A (p.Val828Met) rs143915145 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala) rs985345843 0.00009
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter) rs768768823 0.00007
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_001377229.1(DISP1):c.4054C>T (p.Pro1352Ser) rs952023183 0.00004
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_025074.7(FRAS1):c.2389G>A (p.Glu797Lys) rs372359356 0.00004
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp) rs764968620 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser) rs771579029 0.00003
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_018116.4(MSTO1):c.1600C>T (p.Arg534Cys) rs779998857 0.00003
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile) rs760824351 0.00003
NM_001126108.2(SLC12A3):c.1925+1G>A rs1401379546 0.00002
NM_001395413.1(POR):c.1166dup (p.Ala390fs) rs1554558791 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_004278.4(PIGL):c.660+1G>T rs768198327 0.00002
NM_005378.6(MYCN):c.854G>T (p.Arg285Leu) rs747134309 0.00002
NM_144643.4(SCLT1):c.1421T>C (p.Ile474Thr) rs747582277 0.00002
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly) rs780263938 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu) rs1377413977 0.00001
NM_000540.3(RYR1):c.9472+9G>A rs1392237616 0.00001
NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) rs753437773 0.00001
NM_001042681.2(RERE):c.3292C>G (p.Leu1098Val) rs1215653376 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His) rs755306871 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu) rs1474217458 0.00001
NM_001330078.2(NRXN1):c.2249G>A (p.Arg750His) rs200776618 0.00001
NM_001330288.2(SMARCC2):c.1744-2A>G rs1025329696 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) rs781012274 0.00001
NM_004341.5(CAD):c.2492G>A (p.Arg831His) rs779903352 0.00001
NM_004525.3(LRP2):c.3667+1G>A rs752197557 0.00001
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005529.7(HSPG2):c.3178C>T (p.Arg1060Trp) rs779360555 0.00001
NM_005529.7(HSPG2):c.4003G>A (p.Ala1335Thr) rs532799636 0.00001
NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter) rs780189423 0.00001
NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala) rs756636036 0.00001
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) rs139726733 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_025074.7(FRAS1):c.6323A>T (p.Asp2108Val) rs921444831 0.00001
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) rs751632783 0.00001
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) rs760225405 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) rs374677519 0.00001
NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys) rs1250638849 0.00001
GRCh37/hg19 2q24.2(chr2:159844069-161073462)
GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1
GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1
GRCh37/hg19 2q24.2(chr2:160229645-160357102)
GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1
GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1
GRCh37/hg19 9p13.3-13.1(chr9:36088563-39092820)x1
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1
GRCh38/hg38 10q22.1(chr10:72485363-72566418)
GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)
GRCh38/hg38 12q24.33(chr12:132804406-132944910)
GRCh38/hg38 13q12.3(chr13:30194283-31591879)
GRCh38/hg38 13q13.3(chr13:38940342-39433293)
GRCh38/hg38 13q31.3(chr13:91423419-91631346)
GRCh38/hg38 14q22.3(chr14:56283850-56400818)
GRCh38/hg38 15q11.2(chr15:22781888-23030923)
GRCh38/hg38 15q11.2(chr15:22787668-23051531)
GRCh38/hg38 15q11.2(chr15:22787849-23051049)
GRCh38/hg38 15q13.2(chr15:30097840-30527284)
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)
GRCh38/hg38 15q21.1(chr15:45092835-45433283)
GRCh38/hg38 15q26.2(chr15:94302663-94352488)
GRCh38/hg38 16p11.2(chr16:29653297-30181026)
GRCh38/hg38 16p13.11(chr16:14816348-16678513)
GRCh38/hg38 16p13.3(chr16:3499966-3774794)
GRCh38/hg38 17q12(chr17:36138501-37924067)
GRCh38/hg38 17q12(chr17:36719878-37889304)
GRCh38/hg38 17q21.31(chr17:43603558-44033313)
GRCh38/hg38 17q21.31(chr17:46130641-46273757)
GRCh38/hg38 17q23.2(chr17:61778623-62006540)
GRCh38/hg38 17q25.3(chr17:82004063-83087346)
GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)
GRCh38/hg38 19q13.11(chr19:34469754-34644767)
GRCh38/hg38 1p36.32(chr1:2518272-4413203)
GRCh38/hg38 1q21.1(chr1:145635432-146019857)
GRCh38/hg38 1q32.3(chr1:212337801-213362035)
GRCh38/hg38 20p11.21(chr20:25121080-25485829)
GRCh38/hg38 20p11.22(chr20:21386174-21530996)
GRCh38/hg38 20p12.1(chr20:14696399-15275484)
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)
GRCh38/hg38 22q11.21(chr22:20354589-21405291)
GRCh38/hg38 22q13.31(chr22:44184196-45239435)
GRCh38/hg38 2p22.3(chr2:32415095-33099301)
GRCh38/hg38 2q23.3(chr2:151451642-151807929)
GRCh38/hg38 2q31.3-32.1(chr2:181915576-182470985)
GRCh38/hg38 3q24(chr3:143944349-143982303)
GRCh38/hg38 3q28(chr3:188671476-188811213)
GRCh38/hg38 3q29(chr3:195950438-197629463)
GRCh38/hg38 4p16.3(chr4:59690-133521)
GRCh38/hg38 5p12(chr5:42502606-42696476)
GRCh38/hg38 5q34(chr5:161615157-162040104)
GRCh38/hg38 6p21.31(chr6:34587317-34856828)
GRCh38/hg38 6p25.3(chr6:259345-293593)
GRCh38/hg38 6q26(chr6:161896065-162548892)
GRCh38/hg38 7p21.3(chr7:10609869-11290301)
GRCh38/hg38 7q11.21(chr7:66791158-67272772)
GRCh38/hg38 7q11.23(chr7:73229597-74727852)
GRCh38/hg38 7q21.13(chr7:89998146-90352986)
GRCh38/hg38 7q31.2(chr7:116868268-117565389)
GRCh38/hg38 7q35(chr7:146062109-146215075)
GRCh38/hg38 8p22(chr8:13396389-13807983)
GRCh38/hg38 8p22(chr8:13974643-14229824)
GRCh38/hg38 8p23.2(chr8:4079202-4329179)
GRCh38/hg38 8q21.13(chr8:81061071-81682394)
GRCh38/hg38 9p24.1(chr9:6641895-6676953)
GRCh38/hg38 9p24.3(chr9:46587-273160)
GRCh38/hg38 9q21.11(chr9:68417620-68744894)
GRCh38/hg38 9q22.33-31.1(chr9:99779833-99839574)
GRCh38/hg38 9q33.1(chr9:116667613-116806157)
GRCh38/hg38 Xp11.21(chrX:55519984-55625002)
GRCh38/hg38 Xp22.2(chrX:11240104-11903527)
GRCh38/hg38 Xp22.31(chrX:7873079-8504515)
GRCh38/hg38 Xq21.1(chrX:77914739-77914775)
GRCh38/hg38 Xq21.1(chrX:80247518-80444881)
GRCh38/hg38 Xq25(chrX:124702470-124997671)
GRCh38/hg38 Xq26.2(chrX:133658037-133915611)
GRCh38/hg38 Xq28(chrX:153151471-153250484)
GRCh38/hg38 Yq11.221(chrY:14071214-14175405)
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg) rs2149083027
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs) rs2129679465
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000165.5(GJA1):c.602C>T (p.Ser201Phe)
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg) rs2067299833
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs) rs2063245185
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer) rs2147369813
NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000523.4(HOXD13):c.168GGC[6] (p.Ala71dup) rs3832095
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His) rs376872233
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp) rs1320154351
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_000965.5(RARB):c.881G>T (p.Gly294Val) rs2125325458
NM_000965.5(RARB):c.986G>A (p.Cys329Tyr)
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs) rs2147468376
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs) rs2147080697
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg) rs2147230302
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs) rs1641706044
NM_001042681.2(RERE):c.248dup (p.Ser84fs) rs1557461427
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu) rs878853011
NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro) rs1557582271
NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr) rs1557582259
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001042681.2(RERE):c.4304A>T (p.His1435Leu) rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg) rs1321809020
NM_001042750.2(STAG2):c.1894T>A (p.Cys632Ser) rs2148326358
NM_001042750.2(STAG2):c.1913_1922del (p.Ala638fs) rs2148326568
NM_001079668.3(NKX2-1):c.612C>G (p.Tyr204Ter)
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter) rs864321657
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter) rs796053418
NM_001098.3(ACO2):c.[1894G>A];[487G>T]
NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys) rs1747667870
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu) rs281875334
NM_001101.5(ACTB):c.629G>A (p.Arg210His) rs1064793444
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala)
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly) rs1565307564
NM_001127392.3(MYRF):c.3239dup (p.Glu1081fs) rs1565308384
NM_001127392.3(MYRF):c.350_366delinsT (p.Gly117fs) rs1565286228
NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)
NM_001144967.3(NEDD4L):c.814-6T>A rs2059723813
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001170629.2(CHD8):c.639A>C (p.Pro213=) rs2139539459
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001256686.2(CSNK2A3):c.580T>C (p.Ser194Pro) rs2133068626
NM_001257180.2(SLC20A2):c.731-18_738del rs1234999465
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs) rs2122840340
NM_001291415.2(KDM6A):c.2597_2598del (p.Ser866fs) rs2148050812
NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter) rs2130307055
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs) rs1931281945
NM_001348800.3(ZBTB20):c.1549_1550delinsAT (p.Ala517Met) rs2108202121
NM_001349338.3(FOXP1):c.1718_1722+8del rs2036047362
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro) rs2063911698
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001374353.1(GLI2):c.3523C>T (p.Gln1175Ter)
NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu) rs2033787153
NM_001379500.1(COL18A1):c.2577+1G>A
NM_001386795.1(DTNA):c.1219G>A (p.Ala407Thr)
NM_001394998.1(TANC2):c.3183G>T (p.Lys1061Asn) rs966689202
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.3592T>C (p.Tyr1198His) rs1305375514
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter) rs1393788111
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
NM_002069.6(GNAI1):c.134G>T (p.Gly45Val) rs2115631937
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
NM_002334.4(LRP4):c.694C>A (p.Arg232Ser)
NM_002437.5(MPV17):c.160A>G (p.Met54Val)
NM_002792.4(PSMA7):c.578A>G (p.Lys193Arg)
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629
NM_002890.3(RASA1):c.1103-1G>T rs1759083657
NM_002968.3(SALL1):c.721A>G (p.Ile241Val) rs2143449563
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter) rs2146359668
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu) rs778175819
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003468.4(FZD5):c.904dup (p.His302fs)
NM_003482.4(KMT2D):c.10018C>T (p.Gln3340Ter) rs2120477465
NM_003482.4(KMT2D):c.10258dup (p.Ile3420fs) rs1943140835
NM_003482.4(KMT2D):c.1035_1036del (p.Cys346fs)
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.4(KMT2D):c.13543dup (p.Arg4515fs) rs1942880441
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.4(KMT2D):c.3652G>A (p.Ala1218Thr) rs2120643168
NM_003482.4(KMT2D):c.4419-1G>C
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.7223dup (p.Ser2409fs) rs1943461604
NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs) rs1943436869
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter) rs2145438293
NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
NM_004360.5(CDH1):c.862G>C (p.Asp288His) rs2152131922
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs) rs2141214738
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala) rs2105386662
NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu) rs2105305609
NM_005051.3(QARS1):c.1420C>G (p.Leu474Val) rs754909328
NM_005120.3(MED12):c.5691_5692del (p.Tyr1898fs) rs2092335044
NM_005157.6(ABL1):c.295T>C (p.Trp99Arg) rs1830947813
NM_005251.3(FOXC2):c.563_573del (p.Pro188fs) rs1974220729
NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup) rs2045455875
NM_005499.3(UBA2):c.364C>T (p.Arg122Ter) rs1599889628
NM_005515.4(MNX1):c.869A>G (p.Gln290Arg) rs2134838779
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr) rs1668850707
NM_005816.5(CD96):c.1181-12T>C
NM_005996.4(TBX3):c.337T>G (p.Trp113Gly) rs2121158390
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg) rs2124070027
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs) rs1557620758
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006178.4(NSF):c.1688C>T (p.Pro563Leu) rs2146266663
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.1114-2A>G rs1569358628
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His)
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly) rs587777512
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser) rs1783105291
NM_007035.4(KERA):c.229T>C (p.Tyr77His)
NM_007035.4(KERA):c.331G>A (p.Gly111Arg)
NM_007363.5(NONO):c.1171+1G>T rs876661316
NM_007363.5(NONO):c.457C>T (p.Arg153Ter) rs2031389522
NM_007363.5(NONO):c.550C>T (p.Arg184Ter) rs1602387702
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs) rs1814012663
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs) rs1813907455
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys) rs2086218922
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs) rs1564628365
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
NM_012464.5(TLL1):c.1472A>G (p.Lys491Arg)
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter) rs900492387
NM_013450.4(BAZ2B):c.1435del (p.His479fs)
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr) rs1576949430
NM_013450.4(BAZ2B):c.2152C>T (p.Leu718Phe)
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) rs767318278
NM_013450.4(BAZ2B):c.2T>C (p.Met1Thr)
NM_013450.4(BAZ2B):c.3075+3_3075+6del
NM_013450.4(BAZ2B):c.502G>A (p.Gly168Ser)
NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val) rs1575883384
NM_014008.5(CCDC22):c.909+122G>A
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.3655C>T (p.Pro1219Ser) rs2137633545
NM_014423.4(AFF4):c.2896C>T (p.Pro966Ser)
NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr) rs200378599
NM_014795.4(ZEB2):c.2886+1G>A rs1703257054
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_015330.6(SPECC1L):c.3137_3139del (p.Phe1046del) rs2146820479
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015631.6(TCTN3):c.338_341del (p.His113fs) rs761798713
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016653.3(MAP3K20):c.1592C>A (p.Ser531Ter) rs3769148
NM_016734.3(PAX5):c.1129C>T (p.Arg377Ter) rs377685637
NM_016734.3(PAX5):c.157G>C (p.Asp53His) rs1337956293
NM_016734.3(PAX5):c.419G>A (p.Arg140Gln) rs2132424384
NM_016734.3(PAX5):c.661C>T (p.Arg221Trp) rs2132194720
NM_016734.3(PAX5):c.962C>A (p.Pro321His) rs577863510
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met) rs200445152
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr) rs1231245538
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.519del (p.Pro174fs) rs1809050272
NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs) rs2150805748
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) rs1554603970
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_020117.11(LARS1):c.903del (p.Gln302fs) rs749373022
NM_020436.5(SALL4):c.1068del (p.Lys357fs) rs2122964551
NM_020436.5(SALL4):c.1693C>T (p.Pro565Ser)
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del) rs764632652
NM_021728.4(OTX2):c.471_474dup (p.Ile159fs)
NM_022041.4(GAN):c.861dup (p.Pro288fs)
NM_022336.4(EDAR):c.1133C>T (p.Ala378Val) rs2105371700
NM_023067.4(FOXL2):c.586C>T (p.Gln196Ter) rs104893739
NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr)
NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter) rs563259198
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024596.5(MCPH1):c.586del (p.Gln196fs) rs1803595754
NM_024649.5(BBS1):c.951+1G>T rs746875134
NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn) rs1713133035
NM_024757.5(EHMT1):c.2625del (p.Pro876_Met877insTer) rs2137381305
NM_032271.3(TRAF7):c.1886G>A (p.Ser629Asn) rs2093135960
NM_032436.4(CHAMP1):c.1741del (p.Glu581fs) rs2139421763
NM_033026.6(PCLO):c.4892A>T (p.Asp1631Val) rs1795508585
NM_033026.6(PCLO):c.824_826del (p.Gln275del) rs565675570
NM_052988.5(CDK10):c.299_300dup (p.Leu101fs) rs2151576627
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter) rs1816565787
NM_130466.4(UBE3B):c.2624dup (p.Asn875fs) rs2136102483
NM_130466.4(UBE3B):c.3014A>C (p.Gln1005Pro) rs2136147852
NM_133379.5(TTN):c.11106G>C (p.Leu3702Phe)
NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys) rs1744586399
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) rs1561207924
NM_138422.4(ADAT3):c.586del (p.Ala196fs) rs1555837861
NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer) rs2141721054
NM_152274.5(CCNQ):c.651G>A (p.Trp217Ter) rs2148299424
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter) rs768335581
NM_152424.4(AMER1):c.565C>T (p.Gln189Ter) rs1602068260
NM_152743.4(BRAT1):c.586C>T (p.Gln196Ter)
NM_153704.6(TMEM67):c.1021G>A (p.Gly341Arg)
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_172107.4(KCNQ2):c.857A>C (p.Gln286Pro)
NM_178140.4(PDZD2):c.5108G>C (p.Ser1703Thr)
NM_178857.6(RP1L1):c.6689C>A (p.Thr2230Asn)
NM_181486.4(TBX5):c.454C>G (p.Leu152Val) rs2136416738
NM_198525.3(KIF7):c.3365C>G (p.Ser1122Trp) rs202195179
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)
NM_203475.3(PORCN):c.846-2A>G
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) rs1349009265
NM_207361.5(FREM2):c.[4031G>A];[4558C>T]
NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)
NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe) rs1555261576
NM_207361.6(FREM2):c.5940_5942del (p.Leu1981del) rs775394591
Single allele

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