ClinVar Miner

List of variants reported as benign for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 555
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HGVS dbSNP
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.3(ABCD1):c.*608G>A rs73640819
NM_000033.3(ABCD1):c.*877C>T rs11803
NM_000033.3(ABCD1):c.*894G>A rs1055847
NM_000033.3(ABCD1):c.*8G>C rs2229539
NM_000033.3(ABCD1):c.-59C>T rs4148030
NM_000033.3(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.3(ABCD1):c.1489-6delC rs398123101
NM_000033.3(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.3(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.3(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.3(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.3(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.3(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.3(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.3(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000052.6(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.6(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.6(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.6(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.6(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.6(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.6(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.6(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.6(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.6(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.6(ATP7A):c.3801+6T>C rs181665434
NM_000052.6(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.6(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.6(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.6(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.6(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.6(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.6(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.6(ATP7A):c.610+8G>A rs144616937
NM_000052.6(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.6(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000108.4(DLD):c.*1451T>C rs2108223
NM_000108.4(DLD):c.*18A>T rs8721
NM_000108.4(DLD):c.*207G>A rs4564
NM_000108.4(DLD):c.*28G>T rs17154615
NM_000108.4(DLD):c.*487C>T rs4518
NM_000108.4(DLD):c.*978T>C rs2158835
NM_000108.4(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000202.7(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000202.7(IDS):c.465T>A (p.Phe155Leu) rs149210251
NM_000202.7(IDS):c.467C>A (p.Pro156Gln) rs145231211
NM_000202.7(IDS):c.727C>T (p.Pro243Ser) rs143474305
NM_000240.3(MAOA):c.515G>A (p.Arg172Gln) rs58524323
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000252.2(MTM1):c.136+9C>T rs191553188
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.339T>C (p.Cys113=) rs147644722
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.582C>T (p.Leu194=) rs367912069
NM_000276.3(OCRL):c.324C>T (p.Leu108=) rs754424104
NM_000276.3(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_000489.4(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.4(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.4(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.4(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.4(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.4(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.4(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.4(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.4(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.4(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.4(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.4(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.4(ATRX):c.4120+4A>C rs200420513
NM_000489.4(ATRX):c.4214+6A>G rs782562759
NM_000489.4(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.4(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.4(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.4(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.4(ATRX):c.5787-8_5787-5delGTTT rs782072699
NM_000489.4(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.4(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.5698-7dup rs781820607
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.5(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.299-8T>A rs73196229
NM_000531.5(OTC):c.718-14T>C rs55722856
NM_000531.5(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000925.3(PDHB):c.*243A>C rs1126722
NM_000925.3(PDHB):c.*296C>G rs7231
NM_000925.3(PDHB):c.*353T>C rs1126735
NM_000925.3(PDHB):c.*356A>G rs1126737
NM_000925.3(PDHB):c.*92C>A rs4228
NM_000925.3(PDHB):c.*99C>T rs7230
NM_000925.3(PDHB):c.435G>A (p.Arg145=) rs1438518070
NM_000925.3(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_001008537.2(NEXMIF):c.1132A>G (p.Lys378Glu) rs61741844
NM_001008537.2(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807
NM_001008537.2(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.2(NEXMIF):c.1716G>T (p.Glu572Asp) rs148005156
NM_001008537.2(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597
NM_001008537.2(NEXMIF):c.2139G>A (p.Glu713=) rs139194076
NM_001008537.2(NEXMIF):c.2154T>C (p.Asn718=) rs61741739
NM_001008537.2(NEXMIF):c.2315G>A (p.Arg772His) rs142822527
NM_001008537.2(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.2(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.2(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459
NM_001008537.2(NEXMIF):c.2795C>G (p.Thr932Arg) rs375607660
NM_001008537.2(NEXMIF):c.2801A>G (p.Asn934Ser) rs41306133
NM_001008537.2(NEXMIF):c.3361C>T (p.Arg1121Trp) rs199579887
NM_001008537.2(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.2(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001008537.2(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662
NM_001008537.2(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175
NM_001008537.2(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001008537.2(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001008537.2(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725
NM_001008537.2(NEXMIF):c.72A>G (p.Lys24=) rs200225698
NM_001008537.2(NEXMIF):c.855A>G (p.Leu285=) rs3762242
NM_001018113.2(FANCB):c.*14T>C rs2375726
NM_001018113.2(FANCB):c.-173G>C rs2188383
NM_001018113.2(FANCB):c.-229T>G rs149617434
NM_001018113.2(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.2(FANCB):c.1327-10T>C rs2905223
NM_001018113.2(FANCB):c.1327-3delT rs202067682
NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val) rs61729484
NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) rs142049079
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.1648-3C>T rs563279759
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.1728-4G>A rs188072063
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042537.1(SLC9A6):c.900-6C>T rs17001258
NM_001105243.1(PCDH19):c.1137C>T (p.Gly379=) rs56277715
NM_001105243.1(PCDH19):c.1627C>T (p.Leu543=) rs1953337
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001105243.1(PCDH19):c.2328G>A (p.Leu776=) rs61744561
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) rs3764758
NM_001105243.1(PCDH19):c.2877C>T (p.Asp959=) rs16983426
NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.1(FLNA):c.1429+8C>T rs202181557
NM_001110556.1(FLNA):c.2023-4C>G rs368719012
NM_001110556.1(FLNA):c.2023-6C>T rs372021340
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.1(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.1(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.1(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110792.1(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001142386.2(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.2(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.2(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001184880.1(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.1(PCDH19):c.3400A>C (p.Asn1134His) rs141816797
NM_001184880.1(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.1(PCDH19):c.717C>T (p.Ser239=) rs199628956
NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.1(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001256743.1(GRIA3):c.380dupG (p.Gly128Trpfs) rs778944548
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001456.3(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001456.3(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1581C>T (p.Arg527=) rs782684339
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001456.3(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001456.3(FLNA):c.1691+7C>A rs199565118
NM_001456.3(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001456.3(FLNA):c.1767C>T (p.Gly589=) rs371909600
NM_001456.3(FLNA):c.1824G>A (p.Thr608=) rs782114616
NM_001456.3(FLNA):c.1828+3A>G rs368041880
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.1938C>T (p.His646=) rs369037499
NM_001456.3(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001456.3(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001456.3(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001456.3(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001456.3(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001456.3(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001456.3(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001456.3(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001456.3(FLNA):c.3330G>A (p.Ala1110=) rs781917512
NM_001456.3(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001456.3(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001456.3(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001456.3(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001456.3(FLNA):c.3504C>T (p.Pro1168=) rs368009936
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3597G>A (p.Ser1199=) rs200258756
NM_001456.3(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001456.3(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001456.3(FLNA):c.423C>T (p.Ile141=) rs782198156
NM_001456.3(FLNA):c.4494C>T (p.Asp1498=) rs183948518
NM_001456.3(FLNA):c.4551G>C (p.Gly1517=) rs370476531
NM_001456.3(FLNA):c.4598+8G>C rs112379782
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.4908C>T (p.Ala1636=) rs367979917
NM_001456.3(FLNA):c.5136C>T (p.Tyr1712=) rs782152127
NM_001456.3(FLNA):c.5169G>A (p.Val1723=) rs201458268
NM_001456.3(FLNA):c.5194-4G>A rs370196495
NM_001456.3(FLNA):c.5592G>C (p.Gly1864=) rs782204300
NM_001456.3(FLNA):c.5634C>T (p.Phe1878=) rs182894587
NM_001456.3(FLNA):c.5790C>T (p.Tyr1930=) rs140084263
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.5999-10C>G rs72616474
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.6479-9A>G rs781919390
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.6999+10C>T rs782777494
NM_001456.3(FLNA):c.7068C>A (p.Ile2356=) rs782591917
NM_001456.3(FLNA):c.7197C>T (p.Asn2399=) rs782129907
NM_001456.3(FLNA):c.7198G>A (p.Gly2400Ser) rs201168500
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001456.3(FLNA):c.7410G>A (p.Glu2470=) rs74667788
NM_001456.3(FLNA):c.7426C>T (p.Arg2476Cys) rs782557713
NM_001456.3(FLNA):c.7482C>T (p.Gly2494=) rs200195310
NM_001456.3(FLNA):c.753C>T (p.Asn251=) rs377507152
NM_001456.3(FLNA):c.7544G>A (p.Ser2515Asn) rs782555930
NM_001456.3(FLNA):c.7572A>G (p.Ser2524=) rs200694807
NM_001456.3(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001456.3(FLNA):c.7662C>T (p.Ala2554=) rs76337075
NM_001456.3(FLNA):c.768T>C (p.Ser256=) rs782357419
NM_001456.3(FLNA):c.7732+8A>G rs201663443
NM_001456.3(FLNA):c.7798C>T (p.His2600Tyr) rs781993962
NM_001456.3(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001456.3(FLNA):c.869-7C>T rs143311779
NM_001456.3(FLNA):c.882A>G (p.Thr294=) rs184864998
NM_001456.3(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001931.4(DLAT):c.*1232_*1235dupAGGA rs368743837
NM_001931.4(DLAT):c.*1248G>C rs9822
NM_001931.4(DLAT):c.*419A>G rs9371
NM_001931.4(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.4(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.4(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_002291.2(LAMB1):c.5225-7C>T rs3213673
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC rs193922648
NM_002294.2(LAMP2):c.1093+2450G>A rs149783672
NM_002294.2(LAMP2):c.1191T>C (p.Phe397=) rs752231323
NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_002294.2(LAMP2):c.504C>T (p.Tyr168=) rs150520869
NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.2(LAMP2):c.742-10_742-8delTCT rs730880476
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.2(LAMP2):c.929-5T>C rs375341409
NM_002495.2(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.3(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.3(NDUFS8):c.199+15T>G rs3115545
NM_002764.3(PRPS1):c.336T>C (p.Val112=) rs80338674
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_003159.2(CDKL5):c.145+27_145+28delAT rs745969938
NM_003159.2(CDKL5):c.145+27_145+28dupAT rs745969938
NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_003159.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_003159.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_003159.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_003159.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_003159.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_003159.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_003159.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964
NM_003159.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) rs587783161
NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) rs150900695
NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) rs35693326
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003159.2(CDKL5):c.464-9A>G rs374030184
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003477.2(PDHX):c.*486G>T rs9326
NM_003477.2(PDHX):c.*644C>A rs7808
NM_003477.2(PDHX):c.-124G>C rs375130125
NM_003477.2(PDHX):c.-129C>T rs112032820
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-202A>G rs113073242
NM_003477.2(PDHX):c.-272G>A rs2956111
NM_003477.2(PDHX):c.-302A>G rs2956112
NM_003477.2(PDHX):c.-319G>A rs2956113
NM_003477.2(PDHX):c.-390G>A rs2956114
NM_003477.2(PDHX):c.-4C>G rs3818401
NM_003477.2(PDHX):c.-505G>A rs16926448
NM_003477.2(PDHX):c.-506T>C rs2016814
NM_003477.2(PDHX):c.-88C>A rs2956110
NM_003477.2(PDHX):c.108T>C (p.Ser36=) rs1049307
NM_003477.2(PDHX):c.301A>G (p.Thr101Ala) rs11539202
NM_003477.2(PDHX):c.63C>T (p.Pro21=) rs2956109
NM_003477.2(PDHX):c.641+4T>C rs2767035
NM_003477.2(PDHX):c.67C>T (p.Arg23Cys) rs1049306
NM_003477.2(PDHX):c.798T>C (p.Pro266=) rs61760973
NM_003477.2(PDHX):c.858T>C (p.Val286=) rs497582
NM_003588.3(CUL4B):c.2688G>A (p.Arg896=) rs143580749
NM_003588.3(CUL4B):c.901-10delT rs762094686
NM_003611.2(OFD1):c.-296G>T rs2285635
NM_003611.2(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.2(OFD1):c.111+3A>G rs312262804
NM_003611.2(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.2(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.2(OFD1):c.1654+8A>G rs200767363
NM_003611.2(OFD1):c.1654+9C>T rs200007045
NM_003611.2(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.2(OFD1):c.1730A>G (p.Asn577Ser) rs200465596
NM_003611.2(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.2(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.2(OFD1):c.1930C>T (p.Arg644Cys) rs185831378
NM_003611.2(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.2(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.2(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.2(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.2(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.2(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.2(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.2(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.2(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.2(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.2(OFD1):c.654+29G>A rs312262805
NM_003611.2(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.2(OFD1):c.936-2A>G rs199902986
NM_003611.2:c.441+65A>G
NM_004085.4(TIMM8A):c.*502_*504dup rs4024308
NM_004429.4(EFNB1):c.566T>C (p.Val189Ala) rs16989105
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1101_1106delCCACCA (p.His371_His372del) rs61752381
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1129_1198del70 (p.Lys377Profs) rs1557135353
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.1206C>T (p.Pro402=) rs63586860
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.377+28A>G rs185036026
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.378-20C>G rs368684221
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.810A>G (p.Arg270=) rs782743949
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_005120.2(MED12):c.1140C>T (p.His380=) rs753714929
NM_005120.2(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.2(MED12):c.1332C>T (p.Cys444=) rs746205041
NM_005120.2(MED12):c.1386G>T (p.Val462=) rs186153976
NM_005120.2(MED12):c.1485+6C>T rs565198403
NM_005120.2(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.2(MED12):c.204+12_204+13delCT rs200301833
NM_005120.2(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.2(MED12):c.2886C>T (p.Ser962=) rs34761462
NM_005120.2(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.2(MED12):c.3699G>A (p.Ala1233=) rs184162709
NM_005120.2(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.2(MED12):c.380C>T (p.Thr127Met) rs775072642
NM_005120.2(MED12):c.381G>A (p.Thr127=) rs202125318
NM_005120.2(MED12):c.3942T>C (p.Ser1314=) rs3810670
NM_005120.2(MED12):c.438A>G (p.Leu146=) rs35068602
NM_005120.2(MED12):c.4425A>G (p.Leu1475=) rs370211858
NM_005120.2(MED12):c.5400+6C>T rs192656109
NM_005120.2(MED12):c.5490A>C (p.Thr1830=) rs762466624
NM_005120.2(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.2(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.2(MED12):c.5659G>A (p.Gly1887Ser) rs758621985
NM_005120.2(MED12):c.6201A>G (p.Gln2067=) rs375793297
NM_005120.2(MED12):c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) rs757160341
NM_005120.2(MED12):c.6348_6359dupCCAGCAGCAACA (p.Gln2119_Gln2120insHisGlnGlnGln) rs398124200
NM_005249.4(FOXG1):c.1233G>A (p.Ala411=) rs34654108
NM_005249.4(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.4(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005249.4(FOXG1):c.489C>T (p.Gly163=) rs375378714
NM_005249.4(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005629.3(SLC6A8):c.-5A>G rs384573
NM_005629.3(SLC6A8):c.1016+10G>A rs371905179
NM_005629.3(SLC6A8):c.1016+9C>T rs190690083
NM_005629.3(SLC6A8):c.1020C>T (p.Asp340=) rs144252036
NM_005629.3(SLC6A8):c.1141+6G>A rs373124777
NM_005629.3(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604
NM_005629.3(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.3(SLC6A8):c.1473C>T (p.Cys491=) rs122453118
NM_005629.3(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.3(SLC6A8):c.1496-4G>A rs782589547
NM_005629.3(SLC6A8):c.1496-5C>T rs200695210
NM_005629.3(SLC6A8):c.1496-8C>T rs376038235
NM_005629.3(SLC6A8):c.1597-5C>T rs376073223
NM_005629.3(SLC6A8):c.1626C>T (p.Tyr542=) rs140601882
NM_005629.3(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005629.3(SLC6A8):c.1678A>G (p.Met560Val) rs145438966
NM_005629.3(SLC6A8):c.1713C>T (p.Cys571=) rs782244505
NM_005629.3(SLC6A8):c.1768-3C>T rs150207268
NM_005629.3(SLC6A8):c.1890G>C (p.Val630=) rs376385129
NM_005629.3(SLC6A8):c.495C>T (p.Thr165=) rs144904949
NM_005629.3(SLC6A8):c.498G>A (p.Thr166=) rs201260657
NM_005629.3(SLC6A8):c.544G>A (p.Val182Met) rs149024147
NM_005629.3(SLC6A8):c.777+4C>T rs201581661
NM_005629.3(SLC6A8):c.780C>T (p.Ile260=) rs148232368
NM_005629.3(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005629.3(SLC6A8):c.820G>A (p.Val274Met) rs782208622
NM_005629.3(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.3(SLC6A8):c.912+9G>A rs782694291
NM_005629.3(SLC6A8):c.975A>C (p.Thr325=) rs782517934
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005765.2(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275
NM_005765.2(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005765.2(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014
NM_005765.2(ATP6AP2):c.285G>A (p.Ser95=) rs34217273
NM_005765.2(ATP6AP2):c.38-5T>C rs190477001
NM_005765.2(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522
NM_006359.2(SLC9A6):c.1143G>A (p.Leu381=) rs151178361
NM_006359.2(SLC9A6):c.1520+10A>G rs185533973
NM_006359.2(SLC9A6):c.153A>G (p.Arg51=) rs782090744
NM_006359.2(SLC9A6):c.534T>C (p.Ser178=) rs144316388
NM_006517.4(SLC16A2):c.873A>T (p.Pro291=) rs12849161
NM_006517.4(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476
NM_006859.3(LIAS):c.306C>A (p.Leu102=) rs61731032
NM_006859.3(LIAS):c.393+10G>A rs372094616
NM_006859.3(LIAS):c.393+8C>A rs201574806
NM_006859.3(LIAS):c.57A>C (p.Arg19Ser) rs140921822
NM_006859.3(LIAS):c.726G>A (p.Pro242=) rs371053949
NM_006859.3(LIAS):c.849C>T (p.Gly283=) rs146030265
NM_014165.3(NDUFAF4):c.*382T>A rs1971475
NM_014165.3(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014467.2(SRPX2):c.1293C>T (p.Tyr431=) rs138091242
NM_014467.2(SRPX2):c.460C>G (p.His154Asp) rs73636611
NM_014467.2(SRPX2):c.481C>A (p.Arg161=) rs150552508
NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_015185.2(ARHGEF9):c.918C>G (p.Asp306Glu) rs143490560
NM_016032.3(ZDHHC9):c.167+10G>A rs140526450
NM_016032.3(ZDHHC9):c.626-10A>T rs188156112
NM_016032.3(ZDHHC9):c.674+9C>T rs376385410
NM_016032.3(ZDHHC9):c.975C>T (p.Ser325=) rs139619000
NM_017547.3(FOXRED1):c.-2T>C rs1786702
NM_017745.5(BCOR):c.1260T>C (p.Asp420=) rs5917933
NM_017745.5(BCOR):c.1448C>T (p.Pro483Leu) rs587778096
NM_017745.5(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_017745.5(BCOR):c.1692A>G (p.Ala564=) rs6520618
NM_017745.5(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_017745.5(BCOR):c.1791C>T (p.His597=) rs144606152
NM_017745.5(BCOR):c.1848C>T (p.Gly616=) rs758579970
NM_017745.5(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_017745.5(BCOR):c.2129G>A (p.Arg710His) rs200732803
NM_017745.5(BCOR):c.2199G>T (p.Thr733=) rs140693978
NM_017745.5(BCOR):c.2633T>C (p.Val878Ala) rs759983308
NM_017745.5(BCOR):c.2691G>C (p.Ser897=) rs3810693
NM_017745.5(BCOR):c.3036C>T (p.Pro1012=) rs190344757
NM_017745.5(BCOR):c.3413T>C (p.Val1138Ala) rs145327925
NM_017745.5(BCOR):c.3491G>A (p.Arg1164Gln) rs769057299
NM_017745.5(BCOR):c.3745+7G>C rs142686469
NM_017745.5(BCOR):c.3848C>T (p.Pro1283Leu) rs780412607
NM_017745.5(BCOR):c.3872A>G (p.Lys1291Arg) rs187172641
NM_017745.5(BCOR):c.408C>T (p.Ala136=) rs139802143
NM_017745.5(BCOR):c.4578G>A (p.Thr1526=) rs146007249
NM_017745.5(BCOR):c.4722A>C (p.Pro1574=) rs760093247
NM_017745.5(BCOR):c.4875-4G>T rs5963725
NM_017745.5(BCOR):c.4935A>T (p.Ile1645=) rs113588421
NM_017745.5(BCOR):c.711C>T (p.Val237=) rs727503827
NM_018444.3(PDP1):c.*36T>C rs4735258
NM_018444.3(PDP1):c.*631G>C rs911
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_021074.4(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_021949.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949
NM_021949.3(ATP2B3):c.2326+11C>T rs3020957
NM_021949.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415
NM_021949.3(ATP2B3):c.2839+14G>T rs3020959
NM_021949.3(ATP2B3):c.3052-5C>T rs189012896
NM_021949.3(ATP2B3):c.790+17G>C rs2980013
NM_025152.2(NUBPL):c.*1685A>G rs1129622
NM_025152.2(NUBPL):c.*1694G>A rs1129623
NM_025152.2(NUBPL):c.*1874A>G rs10348
NM_025152.2(NUBPL):c.*995T>C rs10136892
NM_031206.4(LAS1L):c.1791_1793delTGA (p.Asp597del) rs750470319
NM_031407.6(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_032458.2(PHF6):c.374+8T>C rs142596708
NM_032458.2(PHF6):c.927C>T (p.Asp309=) rs112199174
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) rs143538947
NM_080632.2(UPF3B):c.764G>A (p.Arg255Lys) rs142862074
NM_133499.2(SYN1):c.1056-14_1056-8delCTTTGTC rs377385507
NM_133499.2(SYN1):c.1107C>T (p.Ile369=) rs150248483
NM_133499.2(SYN1):c.1110C>T (p.Cys370=) rs141925310
NM_133499.2(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_133499.2(SYN1):c.152C>G (p.Ala51Gly) rs187134574
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_133499.2(SYN1):c.426A>G (p.Lys142=) rs145911562
NM_133499.2(SYN1):c.838-8T>G rs12394306
NM_133499.2(SYN1):c.912C>T (p.Ala304=) rs62636605
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.4(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_198270.3(NHS):c.1651C>T (p.Pro551Ser) rs150688899
NM_198270.3(NHS):c.1697T>C (p.Met566Thr) rs187739639
NM_198270.3(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_198270.3(NHS):c.216_218delGCC (p.Pro73del) rs10590816
NM_198270.3(NHS):c.2530G>A (p.Ala844Thr) rs149609550
NM_198270.3(NHS):c.2768A>T (p.His923Leu) rs149244552
NM_198270.3(NHS):c.3138T>C (p.Ser1046=) rs56908561
NM_198270.3(NHS):c.3141A>G (p.Leu1047=) rs56691712
NM_198270.3(NHS):c.3866G>T (p.Gly1289Val) rs41304731
NM_198270.3(NHS):c.4603T>A (p.Ser1535Thr) rs2071848
NM_198270.3(NHS):c.828G>A (p.Glu276=) rs147497359
OFD1:c.653-6A>G

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