ClinVar Miner

List of variants in gene DDX3X reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_41201089)_(41203086_?)del
NM_001356.5(DDX3X):c.1029C>G (p.Tyr343Ter)
NM_001356.5(DDX3X):c.103+2dup
NM_001356.5(DDX3X):c.1037del (p.Val345_Leu346insTer)
NM_001356.5(DDX3X):c.1091T>G (p.Ile364Arg) rs2147356235
NM_001356.5(DDX3X):c.1096G>T (p.Glu366Ter)
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1126_1127insT (p.Arg376fs)
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1144A>C (p.Ser382Arg) rs1064794068
NM_001356.5(DDX3X):c.119C>G (p.Pro40Arg) rs1064793858
NM_001356.5(DDX3X):c.119CTC[1] (p.Pro41del) rs2147343863
NM_001356.5(DDX3X):c.1203CTT[1] (p.Phe402del) rs1064794133
NM_001356.5(DDX3X):c.1210del (p.Ala404fs) rs796052238
NM_001356.5(DDX3X):c.1216G>C (p.Gly406Arg)
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs) rs2147356679
NM_001356.5(DDX3X):c.1252_1255del (p.Gln417_Lys418insTer) rs2147356685
NM_001356.5(DDX3X):c.1256del (p.Val419fs) rs1064796364
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly) rs2147356713
NM_001356.5(DDX3X):c.1279_1282del (p.Lys427fs)
NM_001356.5(DDX3X):c.1284dup (p.Ser429fs) rs1555953894
NM_001356.5(DDX3X):c.1299CCT[1] (p.Leu435del) rs2147356805
NM_001356.5(DDX3X):c.1316_1317dup (p.Lys440fs)
NM_001356.5(DDX3X):c.1321del (p.Asp441fs) rs796052227
NM_001356.5(DDX3X):c.1325C>G (p.Ser442Ter)
NM_001356.5(DDX3X):c.1334T>G (p.Leu445Ter) rs1555954081
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001356.5(DDX3X):c.1390G>T (p.Glu464Ter) rs1602135779
NM_001356.5(DDX3X):c.1399_1400del (p.Ala467fs)
NM_001356.5(DDX3X):c.1423C>G (p.Arg475Gly) rs1064794574
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001356.5(DDX3X):c.1432_1433del (p.Arg478fs)
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_1441del (p.Arg480_Glu481delinsLys)
NM_001356.5(DDX3X):c.1454dup (p.His485fs) rs1555954122
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001356.5(DDX3X):c.1462del (p.Arg488fs) rs886041963
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.148A>T (p.Lys50Ter) rs1064796382
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val) rs796052236
NM_001356.5(DDX3X):c.1493C>T (p.Thr498Ile) rs200427211
NM_001356.5(DDX3X):c.1498-2A>G rs1131691608
NM_001356.5(DDX3X):c.1503_1504insTGCT (p.Ala502fs) rs1602136301
NM_001356.5(DDX3X):c.1504G>A (p.Ala502Thr)
NM_001356.5(DDX3X):c.151+1G>A rs2147343930
NM_001356.5(DDX3X):c.152-1G>C rs1131691769
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1537_1541del (p.Val513fs) rs2063927827
NM_001356.5(DDX3X):c.1540dup (p.Ile514fs)
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
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>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.1601G>A (p.Arg534His)
NM_001356.5(DDX3X):c.1622C>T (p.Ala541Val)
NM_001356.5(DDX3X):c.1628C>G (p.Ser543Ter)
NM_001356.5(DDX3X):c.1635_1636insCT (p.Asn546fs)
NM_001356.5(DDX3X):c.1658_1661del (p.Thr553fs) rs2147359985
NM_001356.5(DDX3X):c.1658_1662del (p.Thr553fs) rs2063932925
NM_001356.5(DDX3X):c.165del (p.Asp56fs)
NM_001356.5(DDX3X):c.165dup (p.Asp56fs) rs2147348607
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.168_169del (p.Asp56fs) rs1602126956
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter) rs2147360033
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.1733dup (p.His578fs) rs2147360104
NM_001356.5(DDX3X):c.1746_1749dup (p.Ser584Ter)
NM_001356.5(DDX3X):c.1769+1G>A rs1555954414
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
NM_001356.5(DDX3X):c.179G>A (p.Trp60Ter)
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.1808G>A (p.Arg603Gln)
NM_001356.5(DDX3X):c.197dup (p.Asp67fs) rs2063850491
NM_001356.5(DDX3X):c.1A>G (p.Met1Val)
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.233C>G (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.241_242insCTT (p.Lys81delinsThrTer) rs1555952685
NM_001356.5(DDX3X):c.255del (p.Phe85fs) rs1131691299
NM_001356.5(DDX3X):c.265G>T (p.Gly89Ter)
NM_001356.5(DDX3X):c.338_339del (p.Arg113fs)
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs) rs1057518171
NM_001356.5(DDX3X):c.373dup (p.Ser125fs) rs1602129221
NM_001356.5(DDX3X):c.397dup (p.Glu133fs) rs1602129242
NM_001356.5(DDX3X):c.3G>A (p.Met1Ile)
NM_001356.5(DDX3X):c.404_407del (p.Asp135fs)
NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter) rs1555950676
NM_001356.5(DDX3X):c.442C>T (p.Gln148Ter) rs2063867157
NM_001356.5(DDX3X):c.45+1G>A
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.489C>G (p.Tyr163Ter) rs769546741
NM_001356.5(DDX3X):c.543+5G>A rs1555953039
NM_001356.5(DDX3X):c.544-1G>T rs1555953149
NM_001356.5(DDX3X):c.565G>T (p.Glu189Ter) rs2147351713
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.5(DDX3X):c.581dup (p.Asn194fs)
NM_001356.5(DDX3X):c.600T>A (p.Tyr200Ter) rs777274761
NM_001356.5(DDX3X):c.607C>T (p.Pro203Ser)
NM_001356.5(DDX3X):c.610A>C (p.Thr204Pro)
NM_001356.5(DDX3X):c.623_626del (p.Lys208fs) rs2063875918
NM_001356.5(DDX3X):c.623del (p.Lys208fs) rs1555953169
NM_001356.5(DDX3X):c.635C>A (p.Pro212His) rs886039719
NM_001356.5(DDX3X):c.641_643delinsCC (p.Ile214fs) rs1131691571
NM_001356.5(DDX3X):c.645dup (p.Glu216fs) rs2147351858
NM_001356.5(DDX3X):c.659T>C (p.Leu220Ser) rs1064796429
NM_001356.5(DDX3X):c.704T>C (p.Leu235Pro) rs796052224
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter) rs2147340483
NM_001356.5(DDX3X):c.727del (p.Tyr243fs)
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter) rs1275844963
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.749_750insGCCTC (p.Leu251fs) rs1555953333
NM_001356.5(DDX3X):c.751_752dup (p.Leu251fs) rs1602131321
NM_001356.5(DDX3X):c.77del (p.Asn26fs) rs2063787069
NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter) rs1602119250
NM_001356.5(DDX3X):c.79_80insT (p.Gln27fs) rs2147340518
NM_001356.5(DDX3X):c.80dup (p.Ser28fs) rs886041769
NM_001356.5(DDX3X):c.819delinsCT (p.Pro274fs) rs1555953420
NM_001356.5(DDX3X):c.820C>G (p.Pro274Ala)
NM_001356.5(DDX3X):c.82_83del (p.Ser28fs) rs1602119274
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter) rs2147353543
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu) rs1064796820
NM_001356.5(DDX3X):c.862A>T (p.Lys288Ter)
NM_001356.5(DDX3X):c.864+1delinsTTC rs1131691314
NM_001356.5(DDX3X):c.865-1G>C rs1255183431
NM_001356.5(DDX3X):c.869C>G (p.Ser290Ter) rs1555953482
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.875G>T (p.Arg292Leu) rs1064796759
NM_001356.5(DDX3X):c.922C>T (p.Gln308Ter)
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.95del (p.Thr32fs) rs2063787500
NM_001356.5(DDX3X):c.971C>G (p.Pro324Arg)
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.986A>G (p.Asp329Gly)

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