ClinVar Miner

List of variants in gene DDX3X studied for X-linked intellectual disability-hypotonia-movement disorder syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.104-10A>T rs112766093 0.00708
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=) rs186110059 0.00026
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile) rs2063927856 0.00001
NM_001356.5(DDX3X):c.1025+1G>A rs2147354193
NM_001356.5(DDX3X):c.103+6T>G rs2147340616
NM_001356.5(DDX3X):c.1045G>A (p.Ala349Thr)
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly) rs1602134248
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
NM_001356.5(DDX3X):c.1168C>T (p.Gln390Ter)
NM_001356.5(DDX3X):c.1171-1G>C rs1602134459
NM_001356.5(DDX3X):c.1171-2A>C rs2147356545
NM_001356.5(DDX3X):c.1171-2A>G rs2147356545
NM_001356.5(DDX3X):c.1171-8dup rs747987697
NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro) rs796052232
NM_001356.5(DDX3X):c.1177G>C (p.Ala393Pro)
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup) rs1602134468
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.122C>A (p.Pro41His) rs1341824034
NM_001356.5(DDX3X):c.1241dup (p.Asn414fs)
NM_001356.5(DDX3X):c.1249C>G (p.Gln417Glu) rs2147356661
NM_001356.5(DDX3X):c.1250A>G (p.Gln417Arg)
NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs) rs2147356679
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly) rs2147356713
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs) rs2147356723
NM_001356.5(DDX3X):c.1274C>G (p.Ser425Ter) rs2147356745
NM_001356.5(DDX3X):c.1292T>G (p.Leu431Arg)
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro) rs2063911698
NM_001356.5(DDX3X):c.1315+1G>A rs2063911832
NM_001356.5(DDX3X):c.1316-2A>G rs1602135698
NM_001356.5(DDX3X):c.1329G>T (p.Leu443=)
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser) rs2147358490
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg) rs2063923221
NM_001356.5(DDX3X):c.1421A>T (p.Asp474Val) rs2147358546
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer) rs2063923605
NM_001356.5(DDX3X):c.1438A>G (p.Arg480Gly) rs1064796827
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs) rs2147358635
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp) rs2063923749
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro) rs2063923789
NM_001356.5(DDX3X):c.1460T>C (p.Phe487Ser)
NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro) rs796052235
NM_001356.5(DDX3X):c.1466C>G (p.Ser489Ter)
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1487T>G (p.Val496Gly)
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val) rs796052236
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu) rs2063927503
NM_001356.5(DDX3X):c.152-1G>A rs1131691769
NM_001356.5(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs) rs1602136369
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter) rs766409654
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly) rs1555954284
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.1628C>T (p.Ser543Leu) rs2147359928
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter) rs2147360033
NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser) rs2147360044
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter) rs2063933550
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
NM_001356.5(DDX3X):c.1922G>A (p.Gly641Asp)
NM_001356.5(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter) rs2147348697
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del)
NM_001356.5(DDX3X):c.255del (p.Phe85fs) rs1131691299
NM_001356.5(DDX3X):c.269dup (p.Ser90fs) rs1602127262
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs) rs1057518171
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_001356.5(DDX3X):c.42G>C (p.Gln14His) rs2147332861
NM_001356.5(DDX3X):c.443+3A>T rs2147350644
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter) rs61755357
NM_001356.5(DDX3X):c.538G>T (p.Glu180Ter)
NM_001356.5(DDX3X):c.544-8_544-6del rs2063875026
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val) rs2063875155
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.5(DDX3X):c.584T>C (p.Ile195Thr)
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr) rs1569233520
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.5(DDX3X):c.641_643del (p.Ile214del) rs2063876114
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter) rs2063876197
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs) rs2063876393
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg) rs2063876594
NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser) rs2063884615
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter) rs2147340483
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001356.5(DDX3X):c.765+2T>G rs2147352999
NM_001356.5(DDX3X):c.770dup (p.Asn257fs) rs1555953398
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter) rs2063889019
NM_001356.5(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met) rs2063889558
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs) rs1602131859
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001356.5(DDX3X):c.833dup (p.Leu278fs) rs1602131872
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter) rs2147353543
NM_001356.5(DDX3X):c.846C>A (p.Ile282=) rs2063889864
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp) rs2063889955
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu) rs1064796820
NM_001356.5(DDX3X):c.864+2T>G
NM_001356.5(DDX3X):c.865-2A>G
NM_001356.5(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.887G>A (p.Arg296His)
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro) rs1602132216
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe) rs2147353947
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser) rs875989802
NM_001356.5(DDX3X):c.930dup (p.Arg311fs) rs2147353994
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs) rs1602119305

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