ClinVar Miner

List of variants reported as uncertain significance for syndromic intellectual disability by Revvity Omics, Revvity

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 424
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_006245.4(PPP2R5D):c.1558C>T (p.Pro520Ser) rs139183911 0.00050
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp) rs373862041 0.00037
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_020987.5(ANK3):c.8573C>T (p.Ser2858Leu) rs78194762 0.00023
NM_019023.5(PRMT7):c.1945G>A (p.Val649Ile) rs143131470 0.00022
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) rs376827094 0.00021
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln) rs72996036 0.00015
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00010
NM_020987.5(ANK3):c.3604A>G (p.Ile1202Val) rs138308296 0.00010
NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His) rs370690185 0.00009
NM_020987.5(ANK3):c.1267G>A (p.Gly423Ser) rs139379111 0.00009
NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup) rs773508976 0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00008
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_020987.5(ANK3):c.9341T>C (p.Val3114Ala) rs181031970 0.00007
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) rs779051005 0.00006
NM_020699.4(GATAD2B):c.882C>T (p.Pro294=) rs150972720 0.00006
NM_020987.5(ANK3):c.7501C>T (p.Arg2501Trp) rs759280618 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser) rs764843382 0.00005
NM_001347721.2(DYRK1A):c.300+3A>G rs1241074832 0.00005
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_001282531.3(ADNP):c.2150G>A (p.Arg717His) rs756595568 0.00004
NM_013275.6(ANKRD11):c.4534C>T (p.Arg1512Cys) rs372367879 0.00004
NM_020987.5(ANK3):c.5768T>G (p.Val1923Gly) rs201428263 0.00004
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr) rs780371904 0.00004
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) rs763703607 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp) rs1467649797 0.00003
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln) rs367989965 0.00003
NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln) rs377051194 0.00003
NM_001349338.3(FOXP1):c.301A>G (p.Met101Val) rs564508875 0.00003
NM_001371928.1(AHDC1):c.1537G>A (p.Val513Met) rs772405848 0.00003
NM_001830.4(CLCN4):c.11C>T (p.Ala4Val) rs201381518 0.00003
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln) rs753387074 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His) rs373996202 0.00002
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) rs375132545 0.00002
NM_001347721.2(DYRK1A):c.1004T>C (p.Met335Thr) rs746978297 0.00002
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val) rs781938857 0.00002
NM_001371928.1(AHDC1):c.2750C>T (p.Ala917Val) rs199652856 0.00002
NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu) rs1042357480 0.00002
NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser) rs767349582 0.00002
NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser) rs747911603 0.00002
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln) rs763820362 0.00002
NM_015338.6(ASXL1):c.3401C>T (p.Pro1134Leu) rs367744979 0.00002
NM_020699.4(GATAD2B):c.1271G>A (p.Arg424His) rs375391021 0.00002
NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu) rs755152385 0.00002
NM_031206.7(LAS1L):c.1282G>A (p.Val428Met) rs1190754458 0.00002
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp) rs752027152 0.00001
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser) rs761104318 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys) rs559915015 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_002547.3(OPHN1):c.148A>G (p.Met50Val) rs367993068 0.00001
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp) rs370060257 0.00001
NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys) rs775540855 0.00001
NM_013275.6(ANKRD11):c.1994A>G (p.Lys665Arg) rs769640583 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) rs774432060 0.00001
NM_016032.4(ZDHHC9):c.329-2dup rs763845850 0.00001
NM_020699.4(GATAD2B):c.854T>C (p.Val285Ala) rs370689496 0.00001
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu) rs2032247780 0.00001
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln) rs782315292 0.00001
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg) rs1053258649 0.00001
NM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys)
NM_001003694.2(BRPF1):c.1186G>T (p.Ala396Ser)
NM_001003694.2(BRPF1):c.1831C>T (p.Arg611Trp)
NM_001003694.2(BRPF1):c.2219G>A (p.Arg740His)
NM_001003694.2(BRPF1):c.433A>G (p.Thr145Ala)
NM_001003694.2(BRPF1):c.482A>G (p.Asn161Ser)
NM_001003694.2(BRPF1):c.535G>C (p.Val179Leu)
NM_001003694.2(BRPF1):c.976C>T (p.Arg326Cys)
NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)
NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)
NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)
NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp) rs1556016488
NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)
NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)
NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)
NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)
NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)
NM_001079872.2(CUL4B):c.1852+3A>G
NM_001079872.2(CUL4B):c.920+9G>A
NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile)
NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys)
NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe)
NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His)
NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)
NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg) rs1567338837
NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)
NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)
NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)
NM_001145358.2(SIN3A):c.3620A>G (p.His1207Arg)
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)
NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu) rs924686008
NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn)
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)
NM_001190274.2(FBXO11):c.1607C>G (p.Pro536Arg)
NM_001190274.2(FBXO11):c.1643A>T (p.Gln548Leu)
NM_001190274.2(FBXO11):c.174GCC[6] (p.Pro66_Leu67insProProPro)
NM_001190274.2(FBXO11):c.2161A>G (p.Thr721Ala)
NM_001190274.2(FBXO11):c.274C>G (p.Pro92Ala)
NM_001190274.2(FBXO11):c.504C>G (p.Phe168Leu)
NM_001190274.2(FBXO11):c.963A>G (p.Ile321Met)
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val)
NM_001282531.3(ADNP):c.2138C>T (p.Ala713Val)
NM_001282531.3(ADNP):c.2197GAT[2] (p.Asp735del)
NM_001282531.3(ADNP):c.2773G>A (p.Glu925Lys)
NM_001282531.3(ADNP):c.2968_2969inv (p.Glu990Ser)
NM_001282531.3(ADNP):c.3205A>G (p.Ile1069Val)
NM_001282531.3(ADNP):c.3206T>C (p.Ile1069Thr)
NM_001282531.3(ADNP):c.3266A>G (p.His1089Arg)
NM_001282531.3(ADNP):c.613C>G (p.Leu205Val)
NM_001282531.3(ADNP):c.790del (p.Arg264fs)
NM_001282531.3(ADNP):c.907A>G (p.Met303Val)
NM_001347721.2(DYRK1A):c.1071+1_1071+2dup
NM_001347721.2(DYRK1A):c.1325A>G (p.Lys442Arg)
NM_001347721.2(DYRK1A):c.1352T>C (p.Leu451Pro)
NM_001347721.2(DYRK1A):c.1493C>T (p.Thr498Ile)
NM_001347721.2(DYRK1A):c.1714A>G (p.Thr572Ala) rs2053762752
NM_001347721.2(DYRK1A):c.196C>G (p.Leu66Val)
NM_001347721.2(DYRK1A):c.2018A>G (p.Asn673Ser)
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257
NM_001347721.2(DYRK1A):c.300+7C>T rs537532878
NM_001349338.3(FOXP1):c.1286T>G (p.Met429Arg)
NM_001349338.3(FOXP1):c.139G>C (p.Gly47Arg)
NM_001349338.3(FOXP1):c.1556T>C (p.Leu519Pro)
NM_001349338.3(FOXP1):c.1653-19_1653-2dup
NM_001349338.3(FOXP1):c.165GCA[3] (p.Gln60del)
NM_001349338.3(FOXP1):c.1690G>A (p.Ala564Thr)
NM_001349338.3(FOXP1):c.1833G>T (p.Glu611Asp)
NM_001349338.3(FOXP1):c.59C>T (p.Ser20Leu)
NM_001349338.3(FOXP1):c.619A>G (p.Ile207Val)
NM_001349338.3(FOXP1):c.952G>A (p.Glu318Lys)
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
NM_001353921.2(ARHGEF9):c.653T>C (p.Leu218Pro)
NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)
NM_001371928.1(AHDC1):c.1034G>T (p.Gly345Val)
NM_001371928.1(AHDC1):c.1139C>T (p.Pro380Leu)
NM_001371928.1(AHDC1):c.1926G>C (p.Glu642Asp) rs761320400
NM_001371928.1(AHDC1):c.2132G>A (p.Gly711Glu)
NM_001371928.1(AHDC1):c.2672G>A (p.Arg891Gln)
NM_001371928.1(AHDC1):c.2951C>G (p.Thr984Ser)
NM_001371928.1(AHDC1):c.3256T>G (p.Ser1086Ala)
NM_001371928.1(AHDC1):c.3505G>A (p.Asp1169Asn)
NM_001371928.1(AHDC1):c.3544T>G (p.Phe1182Val)
NM_001371928.1(AHDC1):c.3587C>T (p.Ser1196Leu)
NM_001371928.1(AHDC1):c.4134G>T (p.Lys1378Asn)
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)
NM_001371928.1(AHDC1):c.4546A>G (p.Lys1516Glu)
NM_001371928.1(AHDC1):c.461G>A (p.Arg154His)
NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp)
NM_001371928.1(AHDC1):c.58G>A (p.Asp20Asn)
NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)
NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile)
NM_001551.3(IGBP1):c.797C>T (p.Thr266Met)
NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)
NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn)
NM_001830.4(CLCN4):c.209G>T (p.Gly70Val)
NM_002139.4(RBMX):c.217-2dup
NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)
NM_002547.3(OPHN1):c.1781G>A (p.Arg594His)
NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)
NM_002547.3(OPHN1):c.230C>T (p.Thr77Ile)
NM_002547.3(OPHN1):c.295A>T (p.Asn99Tyr)
NM_002547.3(OPHN1):c.841G>A (p.Gly281Arg)
NM_002547.3(OPHN1):c.869A>G (p.Gln290Arg)
NM_003620.4(PPM1D):c.1017+10G>T
NM_003620.4(PPM1D):c.756_759del (p.His253fs)
NM_004187.5(KDM5C):c.1243-3C>T
NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp) rs2146833113
NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)
NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)
NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)
NM_004595.5(SMS):c.1061+2T>C
NM_004595.5(SMS):c.113C>T (p.Ser38Leu)
NM_004595.5(SMS):c.261C>G (p.Asp87Glu)
NM_004595.5(SMS):c.289A>G (p.Met97Val)
NM_005654.6(NR2F1):c.1023C>G (p.Ile341Met)
NM_005654.6(NR2F1):c.173C>A (p.Pro58His)
NM_005654.6(NR2F1):c.5C>T (p.Ala2Val)
NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter)
NM_005654.6(NR2F1):c.99C>A (p.Gly33=)
NM_006245.4(PPP2R5D):c.168C>A (p.Asn56Lys)
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)
NM_006565.4(CTCF):c.118T>G (p.Leu40Val)
NM_006565.4(CTCF):c.216G>T (p.Gln72His)
NM_006565.4(CTCF):c.583C>G (p.Pro195Ala)
NM_006766.5(KAT6A):c.1040C>T (p.Thr347Met)
NM_006766.5(KAT6A):c.1210A>G (p.Lys404Glu)
NM_006766.5(KAT6A):c.2217C>G (p.Phe739Leu)
NM_006766.5(KAT6A):c.2228A>G (p.Gln743Arg)
NM_006766.5(KAT6A):c.3234A>C (p.Glu1078Asp)
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe) rs978156504
NM_006766.5(KAT6A):c.3386G>A (p.Arg1129Gln)
NM_006766.5(KAT6A):c.3510A>C (p.Lys1170Asn)
NM_006766.5(KAT6A):c.4373G>A (p.Ser1458Asn)
NM_006766.5(KAT6A):c.4528A>G (p.Thr1510Ala)
NM_006766.5(KAT6A):c.4533G>C (p.Gln1511His)
NM_006766.5(KAT6A):c.4643G>A (p.Ser1548Asn)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4768G>C (p.Gly1590Arg)
NM_006766.5(KAT6A):c.4898A>G (p.Lys1633Arg)
NM_006766.5(KAT6A):c.5548C>T (p.Pro1850Ser)
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
NM_006766.5(KAT6A):c.806G>A (p.Arg269Gln)
NM_006766.5(KAT6A):c.830A>G (p.Asn277Ser)
NM_006766.5(KAT6A):c.895C>T (p.Arg299Cys)
NM_006908.5(RAC1):c.170A>C (p.Asp57Ala)
NM_006908.5(RAC1):c.280C>T (p.Arg94Cys)
NM_006908.5(RAC1):c.478C>G (p.Leu160Val)
NM_007325.5(GRIA3):c.2171G>A (p.Arg724Gln)
NM_013275.6(ANKRD11):c.1038G>A (p.Glu346=)
NM_013275.6(ANKRD11):c.2539G>A (p.Asp847Asn)
NM_013275.6(ANKRD11):c.2759G>C (p.Arg920Thr)
NM_013275.6(ANKRD11):c.3257A>G (p.Lys1086Arg)
NM_013275.6(ANKRD11):c.3415_3416delinsTT (p.Glu1139Leu)
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)
NM_013275.6(ANKRD11):c.3868C>T (p.His1290Tyr)
NM_013275.6(ANKRD11):c.4453C>G (p.Leu1485Val)
NM_013275.6(ANKRD11):c.4637T>G (p.Val1546Gly)
NM_013275.6(ANKRD11):c.5198C>G (p.Ala1733Gly)
NM_013275.6(ANKRD11):c.5231A>T (p.His1744Leu)
NM_013275.6(ANKRD11):c.5935C>G (p.Leu1979Val)
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)
NM_013275.6(ANKRD11):c.6218C>T (p.Pro2073Leu) rs770387752
NM_013275.6(ANKRD11):c.6329C>T (p.Ser2110Phe)
NM_013275.6(ANKRD11):c.6439G>A (p.Asp2147Asn)
NM_013275.6(ANKRD11):c.6790C>T (p.Pro2264Ser)
NM_013275.6(ANKRD11):c.6970C>T (p.Pro2324Ser)
NM_013275.6(ANKRD11):c.7160G>A (p.Arg2387His)
NM_013275.6(ANKRD11):c.7807-2A>G
NM_014795.4(ZEB2):c.1034G>A (p.Arg345Lys)
NM_014795.4(ZEB2):c.2311C>T (p.Pro771Ser)
NM_014795.4(ZEB2):c.2312C>T (p.Pro771Leu)
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del) rs730881214
NM_014795.4(ZEB2):c.905G>A (p.Arg302Gln) rs730881174
NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)
NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)
NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)
NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)
NM_015100.4(POGZ):c.1368C>A (p.Asn456Lys)
NM_015100.4(POGZ):c.1558G>A (p.Asp520Asn)
NM_015100.4(POGZ):c.166G>A (p.Ala56Thr)
NM_015100.4(POGZ):c.2131G>A (p.Ala711Thr)
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile) rs541476793
NM_015100.4(POGZ):c.2249G>A (p.Arg750Gln)
NM_015100.4(POGZ):c.2540C>A (p.Pro847Gln)
NM_015100.4(POGZ):c.284-3T>C
NM_015100.4(POGZ):c.3011G>A (p.Arg1004His)
NM_015100.4(POGZ):c.3115C>T (p.Arg1039Cys)
NM_015100.4(POGZ):c.3307C>T (p.Leu1103Phe)
NM_015100.4(POGZ):c.3540G>C (p.Met1180Ile)
NM_015100.4(POGZ):c.358A>G (p.Met120Val)
NM_015100.4(POGZ):c.3675G>A (p.Met1225Ile)
NM_015100.4(POGZ):c.3908T>G (p.Val1303Gly)
NM_015100.4(POGZ):c.4007T>C (p.Ile1336Thr)
NM_015100.4(POGZ):c.4042_4043delinsTT (p.Glu1348Leu)
NM_015100.4(POGZ):c.4088A>G (p.His1363Arg) rs556553243
NM_015100.4(POGZ):c.4202A>T (p.Glu1401Val)
NM_015107.3(PHF8):c.2132A>C (p.Glu711Ala)
NM_015107.3(PHF8):c.2959G>A (p.Gly987Ser)
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg)
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg)
NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly)
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)
NM_015335.5(MED13L):c.227T>C (p.Val76Ala)
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2598C>T (p.Pro866=)
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)
NM_015335.5(MED13L):c.2952A>G (p.Gln984=)
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg)
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser)
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)
NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)
NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)
NM_015338.6(ASXL1):c.1073A>G (p.Tyr358Cys)
NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro)
NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly)
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3506C>T (p.Ser1169Phe)
NM_015338.6(ASXL1):c.3847G>A (p.Gly1283Ser)
NM_015338.6(ASXL1):c.4046T>C (p.Val1349Ala)
NM_015338.6(ASXL1):c.4150A>G (p.Asn1384Asp)
NM_015338.6(ASXL1):c.4204A>G (p.Met1402Val)
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg) rs750955319
NM_015570.4(AUTS2):c.105CGG[5] (p.Gly39dup) rs1366255788
NM_015570.4(AUTS2):c.1203C>T (p.Leu401=)
NM_015570.4(AUTS2):c.1276C>G (p.Pro426Ala)
NM_015570.4(AUTS2):c.128C>T (p.Thr43Ile)
NM_015570.4(AUTS2):c.1349_1357dup (p.Ala452_His453insProProAla)
NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.1691T>C (p.Phe564Ser)
NM_015570.4(AUTS2):c.1774C>A (p.Pro592Thr)
NM_015570.4(AUTS2):c.1908A>G (p.Thr636=)
NM_015570.4(AUTS2):c.2396C>T (p.Thr799Met)
NM_015570.4(AUTS2):c.2497C>T (p.Arg833Ter) rs1554487952
NM_015570.4(AUTS2):c.2750C>T (p.Pro917Leu)
NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)
NM_015570.4(AUTS2):c.2891C>T (p.Pro964Leu)
NM_015570.4(AUTS2):c.3001C>G (p.Arg1001Gly)
NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)
NM_015570.4(AUTS2):c.3419G>T (p.Arg1140Leu)
NM_015570.4(AUTS2):c.3434G>T (p.Arg1145Leu)
NM_015570.4(AUTS2):c.3520T>A (p.Ser1174Thr)
NM_015570.4(AUTS2):c.3643G>A (p.Ala1215Thr)
NM_015570.4(AUTS2):c.401C>T (p.Ser134Phe)
NM_015570.4(AUTS2):c.603C>T (p.Ser201=)
NM_015570.4(AUTS2):c.626G>A (p.Ser209Asn)
NM_015570.4(AUTS2):c.91G>A (p.Gly31Arg)
NM_016023.5(OTUD6B):c.316-1622G>A
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu) rs770589013
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg)
NM_018026.4(PACS1):c.1372C>G (p.Leu458Val)
NM_018026.4(PACS1):c.2309C>G (p.Ser770Cys)
NM_018026.4(PACS1):c.286C>T (p.Pro96Ser)
NM_018026.4(PACS1):c.444+9G>A
NM_018026.4(PACS1):c.685G>A (p.Ala229Thr)
NM_018026.4(PACS1):c.970A>G (p.Ile324Val)
NM_019023.5(PRMT7):c.1915T>C (p.Cys639Arg)
NM_019597.5(HNRNPH2):c.737A>G (p.Tyr246Cys)
NM_020699.4(GATAD2B):c.1106C>T (p.Pro369Leu)
NM_020699.4(GATAD2B):c.587T>C (p.Val196Ala)
NM_020699.4(GATAD2B):c.71G>A (p.Arg24Gln)
NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)
NM_020987.5(ANK3):c.2911G>A (p.Asp971Asn)
NM_020987.5(ANK3):c.3997A>G (p.Met1333Val)
NM_020987.5(ANK3):c.4345G>T (p.Asp1449Tyr)
NM_020987.5(ANK3):c.569C>T (p.Ser190Leu)
NM_020987.5(ANK3):c.5992C>T (p.Arg1998Trp)
NM_024528.4(NKAP):c.128G>A (p.Arg43His)
NM_024528.4(NKAP):c.143C>G (p.Ser48Cys)
NM_024528.4(NKAP):c.812A>T (p.Glu271Val)
NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)
NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
NM_031206.7(LAS1L):c.1301-10T>C
NM_031206.7(LAS1L):c.1570C>A (p.Pro524Thr)
NM_031206.7(LAS1L):c.311G>T (p.Gly104Val)
NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)
NM_031407.7(HUWE1):c.10237G>A (p.Val3413Met)
NM_031407.7(HUWE1):c.10654G>T (p.Gly3552Cys)
NM_031407.7(HUWE1):c.11221A>G (p.Asn3741Asp)
NM_031407.7(HUWE1):c.11410C>G (p.Arg3804Gly)
NM_031407.7(HUWE1):c.2521C>T (p.Leu841Phe)
NM_031407.7(HUWE1):c.353A>G (p.His118Arg)
NM_031407.7(HUWE1):c.3727G>A (p.Val1243Met)
NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu) rs2149250400
NM_031407.7(HUWE1):c.5122A>C (p.Lys1708Gln)
NM_031407.7(HUWE1):c.5494T>G (p.Cys1832Gly)
NM_031407.7(HUWE1):c.5885-1G>C
NM_031407.7(HUWE1):c.6062C>T (p.Thr2021Ile)
NM_031407.7(HUWE1):c.6071C>G (p.Ser2024Cys)
NM_031407.7(HUWE1):c.6317_6318delinsTG (p.Cys2106Leu)
NM_031407.7(HUWE1):c.6447G>T (p.Gln2149His)
NM_031407.7(HUWE1):c.8152A>C (p.Ser2718Arg)
NM_031407.7(HUWE1):c.8159A>G (p.Gln2720Arg)
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)
NM_031407.7(HUWE1):c.8458A>G (p.Thr2820Ala)
NM_031407.7(HUWE1):c.8529T>A (p.Asp2843Glu)
NM_031407.7(HUWE1):c.8653G>A (p.Ala2885Thr)
NM_031407.7(HUWE1):c.8686G>C (p.Ala2896Pro)
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu) rs2147326587
NM_052988.5(CDK10):c.638C>T (p.Thr213Ile)
NM_052988.5(CDK10):c.886G>A (p.Gly296Arg)
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys)
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu)
NM_152564.5(VPS13B):c.11392+771C>A
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile)
NM_152564.5(VPS13B):c.2013+3A>G
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val)
NM_152564.5(VPS13B):c.2516-3T>A rs377723973
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile)
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu)
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn)
NM_152564.5(VPS13B):c.4746-3794A>C
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_198880.3(QRICH1):c.1981C>T (p.Pro661Ser)
NM_198880.3(QRICH1):c.476C>A (p.Pro159His)
NM_198880.3(QRICH1):c.701G>A (p.Arg234Gln)

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