ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595 0.01179
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_007363.5(NONO):c.154+11G>C rs142366840 0.01069
NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=) rs143752287 0.01066
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=) rs11573531 0.00965
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_001356.5(DDX3X):c.104-10A>T rs112766093 0.00708
NM_031407.7(HUWE1):c.963+18T>C rs145428690 0.00694
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217 0.00593
NM_031407.7(HUWE1):c.6030+20G>A rs144140925 0.00590
NM_001039591.3(USP9X):c.3028-7A>G rs115310559 0.00514
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001330360.2(POLA1):c.1687-15C>T rs11573348 0.00442
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=) rs146007249 0.00140
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His) rs151125150 0.00083
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) rs41297324 0.00083
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu) rs141145230 0.00045
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile) rs146403660 0.00042
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val) rs142236686 0.00038
NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr) rs145905162 0.00036
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=) rs148007434 0.00033
NM_004606.5(TAF1):c.4754-4A>G rs370696191 0.00029
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=) rs186110059 0.00026
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019 0.00019
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937 0.00018
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425 0.00016
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00015
NM_003491.4(NAA10):c.179+20G>A rs199988253 0.00014
NM_004595.5(SMS):c.114G>A (p.Ser38=) rs138924455 0.00014
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=) rs150514156 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) rs372445055 0.00011
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=) rs202158967 0.00009
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794 0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln) rs192628082 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103 0.00005
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=) rs758753633 0.00005
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768 0.00005
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg) rs761118786 0.00004
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00004
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608 0.00003
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp) rs1467649797 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr) rs757649304 0.00002
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) rs1313448533 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val) rs1294140756 0.00002
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu) rs748573163 0.00002
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala) rs747472111 0.00001
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183 0.00001
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00001
NM_001110556.2(FLNA):c.2316C>A (p.Val772=) rs2067723075 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886 0.00001
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) rs1924836688 0.00001
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) rs1200431087 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) rs764670975 0.00001
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) rs2080106700
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=) rs367878305
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His) rs1569155643
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001356.5(DDX3X):c.1171-8dup rs747987697
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=) rs562407134
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) rs886044870
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala) rs2069367677
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+9_263+18dup rs55712755
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218

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