ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 507
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HGVS dbSNP gnomAD frequency
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687 0.00842
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_005993.5(TBCD):c.2327C>T (p.Ser776Leu) rs186699341 0.00019
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) rs201317502 0.00010
NM_170606.3(KMT2C):c.11651C>T (p.Thr3884Met) rs140246095 0.00008
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_001102401.4(TTI2):c.1064G>A (p.Arg355His) rs201287148 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro) rs138173790 0.00006
NM_001365999.1(SZT2):c.4721G>A (p.Arg1574Gln) rs532357677 0.00005
NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser) rs762567167 0.00005
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys) rs778049192 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_014008.5(CCDC22):c.1867C>T (p.Arg623Trp) rs1031657486 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly) rs745318716 0.00003
NM_000193.4(SHH):c.44C>G (p.Ser15Trp) rs760920236 0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001365999.1(SZT2):c.5333T>G (p.Phe1778Cys) rs771463216 0.00002
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn) rs1159561275 0.00002
NM_015937.6(PIGT):c.1691G>A (p.Arg564Gln) rs367629282 0.00002
NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser) rs778842491 0.00002
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys) rs1462221945 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001365999.1(SZT2):c.8137G>A (p.Val2713Met) rs773129616 0.00001
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys) rs1556852786 0.00001
NM_006565.4(CTCF):c.1103G>A (p.Arg368His) rs1259610303 0.00001
NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn) rs750256116 0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988 0.00001
NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu) rs587784444 0.00001
NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp) rs1296782375 0.00001
NM_014233.4(UBTF):c.1871A>G (p.Lys624Arg) rs1392411800 0.00001
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) rs1879044151 0.00001
NM_015335.5(MED13L):c.4114+2T>A rs1393295692 0.00001
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro) rs1261763875 0.00001
NM_017934.7(PHIP):c.214C>T (p.Pro72Ser) rs1773329318 0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter) rs200788163 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_024665.7(TBL1XR1):c.1172A>G (p.Asn391Ser) rs1714446805 0.00001
NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn) rs961989627 0.00001
NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp) rs761833391 0.00001
GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1
GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1
GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1
GRCh37/hg19 2p23.3(chr2:26860458-27346266)x1
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
NM_000193.4(SHH):c.1048G>T (p.Ala350Ser) rs768025752
NM_000193.4(SHH):c.281C>G (p.Ala94Gly) rs1803529327
NM_000193.4(SHH):c.37del (p.Val13fs)
NM_001009999.3(KDM1A):c.2456G>A (p.Arg819Gln)
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) rs2108958817
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter) rs1924000101
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001080517.3(SETD5):c.1689del (p.Glu564fs) rs2125273254
NM_001080517.3(SETD5):c.2838_2847del (p.His947fs)
NM_001080517.3(SETD5):c.740del (p.Pro247fs)
NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs) rs2144676461
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) rs2047109965
NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr) rs2059992286
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.275A>G (p.Asn92Ser) rs1784830795
NM_001101.5(ACTB):c.965C>G (p.Pro322Arg) rs1784802825
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs) rs1950250678
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter) rs1444395453
NM_001163435.3(TBCK):c.193+1G>T rs1767828321
NM_001197104.1:c.(4332+1_4333-1)_(6505+1_6506-1)del
NM_001197104.2(KMT2A):c.2206del (p.Arg736fs)
NM_001197104.2(KMT2A):c.3581G>A (p.Cys1194Tyr) rs1950106455
NM_001197104.2(KMT2A):c.5828G>A (p.Gly1943Glu) rs1950444447
NM_001197104.2(KMT2A):c.5876T>G (p.Phe1959Cys) rs1950445141
NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs) rs1057520177
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr) rs748774594
NM_001270.4(CHD1):c.662A>T (p.Asp221Val) rs1751666878
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs) rs2122753883
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs) rs2122747616
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2572G>A (p.Ala858Thr) rs1448543362
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter) rs1980763449
NM_001282531.3(ADNP):c.64dup (p.Ile22fs) rs1982229334
NM_001282531.3(ADNP):c.709del (p.Val237fs) rs1981116316
NM_001291415.2(KDM6A):c.3682G>A (p.Val1228Ile) rs2148169594
NM_001291415.2(KDM6A):c.3773_3776dup (p.Tyr1260fs)
NM_001291415.2(KDM6A):c.400T>C (p.Tyr134His) rs2041728428
NM_001330078.2(NRXN1):c.-59_772+1193del
NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter) rs1877432240
NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly) rs1873193008
NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs) rs2053566124
NM_001347721.2(DYRK1A):c.1526C>G (p.Ser509Ter)
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs) rs2052612564
NM_001347721.2(DYRK1A):c.475G>C (p.Gly159Arg)
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.687del (p.Phe229fs) rs2053036372
NM_001347721.2(DYRK1A):c.871C>T (p.Arg291Cys)
NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter) rs1555985524
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365999.1(SZT2):c.1858C>G (p.Leu620Val)
NM_001365999.1(SZT2):c.185G>C (p.Ser62Thr) rs2153929670
NM_001365999.1(SZT2):c.3424A>C (p.Thr1142Pro)
NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp) rs906119040
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter) rs200178393
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg) rs1645575152
NM_001371986.1(UNC80):c.6646+1del rs2091489920
NM_001374353.1(GLI2):c.31G>T (p.Glu11Ter)
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs) rs1779022643
NM_001374828.1(ARID1B):c.1987-29742G>A rs1554261846
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter) rs773640553
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer) rs2128634579
NM_001374828.1(ARID1B):c.3308A>G (p.Lys1103Arg)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu) rs758748419
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter) rs1259041590
NM_001375380.1(EBF3):c.1429_1441del (p.Thr477fs) rs1064794961
NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp) rs2134659512
NM_001375380.1(EBF3):c.326A>C (p.His109Pro) rs1484783852
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp) rs1589962586
NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser) rs2134610864
NM_001379291.1(BRD4):c.1292A>C (p.Lys431Thr)
NM_001379403.1(WDR26):c.1468C>G (p.Leu490Val) rs374760855
NM_001379403.1(WDR26):c.390_412del (p.Leu132fs) rs2102930594
NM_001394372.1(BICRA):c.1163del (p.Pro388fs)
NM_001429.4(EP300):c.1143C>G (p.His381Gln) rs2145710465
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_001429.4(EP300):c.5092A>T (p.Thr1698Ser) rs549834848
NM_001429.4(EP300):c.5249A>G (p.Asn1750Ser) rs2145515265
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.7070_7096dup (p.Asn2357_Ala2365dup) rs2059220245
NM_001429.4(EP300):c.749C>G (p.Pro250Arg) rs2058879222
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001791.4(CDC42):c.291G>T (p.Trp97Cys)
NM_001791.4(CDC42):c.487-1465del rs1645699552
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.564dup (p.Met189fs) rs2125622579
NM_001904.4(CTNNB1):c.735-1G>A
NM_001904.4(CTNNB1):c.811del (p.Met271fs) rs2078160335
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) rs1554139743
NM_002397.5(MEF2C):c.391C>T (p.Gln131Ter)
NM_002397.5(MEF2C):c.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
NM_002641.4(PIGA):c.1261G>C (p.Gly421Arg) rs771058274
NM_002641.4(PIGA):c.342G>T (p.Arg114Ser) rs1569180012
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_003036.4(SKI):c.486A>C (p.Lys162Asn)
NM_003070.5(SMARCA2):c.2852A>G (p.Lys951Arg) rs1821908356
NM_003070.5(SMARCA2):c.3230C>G (p.Ser1077Cys) rs1822649784
NM_003070.5(SMARCA2):c.3252T>A (p.Asp1084Glu) rs1822650605
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) rs281875197
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3505G>T (p.Val1169Phe) rs2130599641
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) rs1823198138
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) rs2130626814
NM_003070.5(SMARCA2):c.4414A>C (p.Met1472Leu) rs752298477
NM_003070.5(SMARCA2):c.4461+3C>G rs1827087118
NM_003070.5(SMARCA2):c.669GCA[19] (p.Gln238_Pro239insGlnGlnGlnGlnGlnGln) rs113070757
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys) rs2145938426
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys) rs1600649575
NM_003107.3(SOX4):c.1308dup (p.Glu437fs) rs1763138195
NM_003107.3(SOX4):c.193G>A (p.Ala65Thr) rs2113557065
NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3]) rs2103276417
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs) rs2103276750
NM_003403.5(YY1):c.1192A>G (p.Thr398Ala)
NM_003482.4(KMT2D):c.10379A>G (p.Gln3460Arg) rs1943129038
NM_003482.4(KMT2D):c.13650del (p.Leu4551fs) rs1942874047
NM_003482.4(KMT2D):c.2426A>C (p.Gln809Pro) rs1398110011
NM_003482.4(KMT2D):c.297del (p.Ser102fs) rs1938291650
NM_003482.4(KMT2D):c.4307C>T (p.Ala1436Val) rs2120611836
NM_003482.4(KMT2D):c.5473G>A (p.Asp1825Asn) rs202048008
NM_003482.4(KMT2D):c.6625C>T (p.Pro2209Ser) rs1943503730
NM_003482.4(KMT2D):c.7538G>A (p.Gly2513Glu) rs1943441906
NM_003482.4(KMT2D):c.7883T>C (p.Leu2628Pro) rs1943413102
NM_003482.4(KMT2D):c.8366+2T>G rs1943368267
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098
NM_003620.4(PPM1D):c.1606del (p.Arg536fs) rs2031564242
NM_003620.4(PPM1D):c.1727_1728delinsC (p.Val576fs) rs2143733522
NM_003620.4(PPM1D):c.1728del (p.Lys577fs)
NM_003737.4(DCHS1):c.4787C>T (p.Ser1596Leu)
NM_004187.5(KDM5C):c.2516+3A>G
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter) rs1934722562
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) rs2050683099
NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) rs2050609262
NM_004247.4(EFTUD2):c.2815dup (p.Arg939fs)
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp) rs397507475
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del) rs1800500908
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser) rs2052990480
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) rs1596791996
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu) rs2051845365
NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp) rs1563181538
NM_004456.5(EZH2):c.472C>T (p.His158Tyr) rs2129476891
NM_004456.5(EZH2):c.775G>C (p.Glu259Gln) rs1807775523
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr) rs1057524049
NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val) rs2100280361
NM_005120.3(MED12):c.1439T>C (p.Leu480Pro) rs2092293046
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala) rs2092303518
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile) rs2147844978
NM_005343.4(HRAS):c.112-59_*6-51del
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005360.5(MAF):c.197C>T (p.Ser66Leu)
NM_005413.4(SIX3):c.401C>A (p.Ala134Glu)
NM_005413.4(SIX3):c.686C>T (p.Pro229Leu) rs2103642448
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.3007C>T (p.Arg1003Cys) rs1861395935
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.707G>A (p.Arg236His)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1235T>C (p.Leu412Pro) rs2148363751
NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) rs140601882
NM_005629.4(SLC6A8):c.1659C>A (p.Tyr553Ter)
NM_005629.4(SLC6A8):c.199G>C (p.Gly67Arg) rs1557043855
NM_005629.4(SLC6A8):c.406G>A (p.Ala136Thr) rs1557044406
NM_005629.4(SLC6A8):c.644A>G (p.Glu215Gly) rs2091456256
NM_005862.3(STAG1):c.2647A>T (p.Met883Leu) rs1937096737
NM_005993.5(TBCD):c.1006C>T (p.Gln336Ter)
NM_005993.5(TBCD):c.1589T>C (p.Ile530Thr)
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_005993.5(TBCD):c.452A>C (p.Tyr151Ser)
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del) rs2080257947
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe) rs1553152590
NM_006015.6(ARID1A):c.4004+5G>A rs2081106391
NM_006015.6(ARID1A):c.4102-1G>C rs2081113293
NM_006015.6(ARID1A):c.6425G>A (p.Ser2142Asn)
NM_006015.6(ARID1A):c.849_854del (p.Gly284_Gly285del) rs766163118
NM_006245.4(PPP2R5D):c.570_605del (p.Gly191_Thr202del)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006265.3(RAD21):c.273A>G (p.Pro91=) rs1812624997
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln) rs2142839453
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006565.4(CTCF):c.1025G>A (p.Arg342His) rs1002125753
NM_006565.4(CTCF):c.1078A>C (p.Ser360Arg) rs2142839790
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1117C>G (p.His373Asp) rs2142847326
NM_006565.4(CTCF):c.1118A>C (p.His373Pro) rs2142847343
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1186dup (p.Arg396fs) rs879255571
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr) rs2142849459
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln) rs2142849782
NM_006565.4(CTCF):c.148dup (p.Val50fs) rs2142823841
NM_006565.4(CTCF):c.1585G>A (p.Asp529Asn) rs201123106
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter) rs2142887156
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys) rs146712579
NM_006565.4(CTCF):c.292_293del (p.Leu98fs) rs2142824576
NM_006565.4(CTCF):c.329dup (p.Gly111fs) rs2052056650
NM_006565.4(CTCF):c.375dup (p.Val126fs) rs879255570
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.688del (p.Glu230fs) rs2142826656
NM_006565.4(CTCF):c.773_776del (p.Lys258fs) rs1567608876
NM_006565.4(CTCF):c.782-1G>T rs2142827936
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer) rs2142828055
NM_006565.4(CTCF):c.833G>T (p.Arg278Leu) rs779012125
NM_006565.4(CTCF):c.848G>A (p.Arg283His) rs1567609067
NM_006565.4(CTCF):c.881A>C (p.His294Pro) rs2052068772
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser) rs2052136913
NM_006662.3(SRCAP):c.3287C>A (p.Thr1096Asn) rs1423358122
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln) rs1824373842
NM_007059.4(KPTN):c.1129_1168dup (p.Val390fs)
NM_007118.4(TRIO):c.1035T>G (p.Phe345Leu) rs1736873932
NM_007118.4(TRIO):c.1368G>A (p.Lys456=)
NM_007118.4(TRIO):c.1644G>T (p.Gln548His) rs1739405858
NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)
NM_007118.4(TRIO):c.298del (p.Arg100fs) rs1735893497
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs) rs1554068529
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.4535T>C (p.Phe1512Ser) rs1747843990
NM_007118.4(TRIO):c.5239C>T (p.Pro1747Ser) rs1053063993
NM_007118.4(TRIO):c.5491_5496+12del
NM_007118.4(TRIO):c.6083_6084insT (p.Phe2029fs)
NM_007118.4(TRIO):c.6153+1G>A rs1755124330
NM_007118.4(TRIO):c.651_652del (p.Arg217fs) rs1736840999
NM_007118.4(TRIO):c.6554_6557del (p.Glu2185fs) rs2126611738
NM_007118.4(TRIO):c.6836-6T>C rs1364924645
NM_007118.4(TRIO):c.7003del (p.Arg2335fs)
NM_007129.5(ZIC2):c.1382_1411del (p.Ala461_Ala470del) rs2152163821
NM_007363.5(NONO):c.651-1G>C rs2031456898
NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) rs1842975561
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.4506del (p.Asp1503fs) rs2134241204
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile) rs1381192866
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter) rs749607205
NM_013275.6(ANKRD11):c.1742_1743del (p.Ser580_Ser581insTer) rs2151762916
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs) rs2034502951
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs) rs2034487965
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2516_2517del (p.Asp839fs)
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)
NM_013275.6(ANKRD11):c.4381_4384del (p.Lys1461fs) rs2034307984
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs) rs2151750068
NM_013275.6(ANKRD11):c.5285A>G (p.Asp1762Gly) rs2034211358
NM_013275.6(ANKRD11):c.5438_5439insT (p.Gln1813fs) rs2034195455
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs) rs2034054366
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp) rs1555523386
NM_014008.5(CCDC22):c.1636-6G>C rs2066012194
NM_014141.6(CNTNAP2):c.1348+1G>A
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu) rs950558629
NM_014225.6(PPP2R1A):c.475T>G (p.Ser159Ala) rs2122330275
NM_014225.6(PPP2R1A):c.532A>G (p.Thr178Ala)
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln) rs1131691429
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) rs1586200380
NM_014795.4(ZEB2):c.1309C>T (p.Gln437Ter) rs760437173
NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs) rs1703269824
NM_014795.4(ZEB2):c.2825G>T (p.Gly942Val) rs1703257942
NM_014795.4(ZEB2):c.2973del (p.Lys992fs) rs1703231315
NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter) rs1703133912
NM_014795.4(ZEB2):c.66del (p.Asn24fs) rs2149935119
NM_014795.4(ZEB2):c.71del (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.905G>A (p.Arg302Gln) rs730881174
NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg) rs758822672
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.13G>A (p.Asp5Asn) rs1557938084
NM_015100.4(POGZ):c.1679-2A>G
NM_015100.4(POGZ):c.1725del (p.Leu576fs)
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs) rs1653497680
NM_015107.3(PHF8):c.1731-1G>C
NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala) rs139099983
NM_015335.5(MED13L):c.2569+8G>A
NM_015335.5(MED13L):c.2593T>C (p.Phe865Leu)
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.3227G>A (p.Ser1076Asn) rs1878075866
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val) rs777146447
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His) rs1877392834
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) rs139063441
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del) rs1876856419
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs) rs1876855942
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)
NM_015335.5(MED13L):c.57del (p.Asn20fs)
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) rs1876147349
NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr) rs2137182119
NM_015335.5(MED13L):c.760_1175+967del
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.3425A>G (p.Gln1142Arg) rs2011847101
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) rs763386297
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.2345del (p.Asn782fs)
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs) rs2077066093
NM_015570.4(AUTS2):c.1193G>C (p.Ser398Thr) rs1195381602
NM_015570.4(AUTS2):c.1298del (p.Leu433fs) rs1057518198
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
NM_015570.4(AUTS2):c.1617C>A (p.His539Gln)
NM_015570.4(AUTS2):c.2215G>A (p.Ala739Thr) rs1483994190
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4(AUTS2):c.916A>G (p.Ile306Val) rs1789667169
NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del
NM_015937.6(PIGT):c.17del (p.Pro6fs)
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs) rs2132826154
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_017934.7(PHIP):c.1296G>T (p.Trp432Cys)
NM_017934.7(PHIP):c.1462G>T (p.Asp488Tyr) rs2127740532
NM_017934.7(PHIP):c.1879+1G>A
NM_017934.7(PHIP):c.3110C>A (p.Ser1037Ter) rs1767424632
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_017934.7(PHIP):c.3297_3298del (p.Phe1100fs)
NM_017934.7(PHIP):c.3947dup (p.Tyr1316Ter) rs1582100341
NM_017934.7(PHIP):c.4630+2_4630+5del rs2127682146
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020699.4(GATAD2B):c.1419+1G>A rs1674353589
NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter) rs1674512996
NM_020771.4(HACE1):c.402+5G>A rs1316982922
NM_022552.5(DNMT3A):c.67C>T (p.Arg23Ter) rs2034255903
NM_022552.5(DNMT3A):c.855+1G>A rs772041639
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) rs944608317
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_024339.5(THOC6):c.324G>C (p.Lys108Asn) rs1302083979
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs) rs1715100386
NM_024665.7(TBL1XR1):c.559G>C (p.Gly187Arg) rs2108492204
NM_024757.5(EHMT1):c.1501+1del rs2136274853
NM_024757.5(EHMT1):c.2359G>T (p.Asp787Tyr)
NM_024757.5(EHMT1):c.3012_3016del (p.Pro1005fs) rs2137714332
NM_024757.5(EHMT1):c.3345_3361del (p.Cys1115_Gln1121delinsTer)
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.575_581del (p.Pro192fs) rs2135511963
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024757.5(EHMT1):c.756dup (p.Phe253fs) rs1554852664
NM_024757.5(EHMT1):c.824C>G (p.Ala275Gly) rs772558779
NM_030632.3(ASXL3):c.1220_1226dup (p.Ser410fs)
NM_030632.3(ASXL3):c.1714del (p.Lys571_Ile572insTer) rs2145413424
NM_030632.3(ASXL3):c.2127del (p.Leu710fs)
NM_030632.3(ASXL3):c.2672A>G (p.Asp891Gly) rs1287313472
NM_030632.3(ASXL3):c.3352dup (p.Ala1118fs) rs2145423903
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs) rs2067697776
NM_030632.3(ASXL3):c.3944C>G (p.Ser1315Ter) rs916597985
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs) rs1599573656
NM_030632.3(ASXL3):c.4365_4389del (p.Pro1456_Pro1457insTer)
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.707A>G (p.Tyr236Cys) rs780157776
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) rs2032121558
NM_032195.2:c.(?_-55)_1405del
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) rs1816558436
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)
NM_130466.4(UBE3B):c.1445T>A (p.Leu482His) rs1879212341
NM_130466.4(UBE3B):c.1616T>C (p.Leu539Pro) rs1879869290
NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val) rs1743429461
NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg) rs1744567400
NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile) rs1744597297
NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly) rs1275880743
NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr) rs2149676816
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.8370del (p.Thr2791fs) rs1755229121
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) rs587777698
NM_138927.4(SON):c.1075C>T (p.Gln359Ter)
NM_138927.4(SON):c.2191A>G (p.Met731Val) rs1416371859
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.3617_3618del (p.Glu1206fs) rs2145829543
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139125.4(MASP1):c.1780G>A (p.Gly594Ser) rs2108513487
NM_152515.5(CKAP2L):c.1822+1G>A rs1680053234
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) rs2133808512
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_170606.3(KMT2C):c.10931C>T (p.Pro3644Leu) rs2129103910
NM_170606.3(KMT2C):c.13583A>T (p.Gln4528Leu) rs1249858653
NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs) rs1588573059
NM_170606.3(KMT2C):c.2983A>G (p.Lys995Glu)
NM_170606.3(KMT2C):c.5088dup (p.Ala1697fs) rs2093489078
NM_170606.3(KMT2C):c.6589C>T (p.Gln2197Ter) rs2093425957
NM_170606.3(KMT2C):c.7207C>T (p.Arg2403Ter) rs767365126
NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter)
NM_170606.3(KMT2C):c.8045C>T (p.Ser2682Phe) rs745935927
NM_178012.5(TUBB2B):c.208C>A (p.Pro70Thr) rs1554126963
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile) rs1757276859
NM_178012.5(TUBB2B):c.81G>C (p.Glu27Asp) rs1757291076
NM_198525.3(KIF7):c.2201C>T (p.Ala734Val) rs1963940594

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