ClinVar Miner

List of variants in gene DDX3X reported as likely pathogenic for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
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.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
NM_001356.5(DDX3X):c.1171-2A>C rs2147356545
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.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.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.1415A>G (p.His472Arg) rs2063923221
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001356.5(DDX3X):c.1438A>G (p.Arg480Gly) rs1064796827
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro) rs2063923789
NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) 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.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>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.1695A>C (p.Gln565His)
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter) rs61755357
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.599A>G (p.Tyr200Cys)
NM_001356.5(DDX3X):c.765+2T>G rs2147352999
NM_001356.5(DDX3X):c.820C>T (p.Pro274Ser) rs1267519974
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.864+2T>G
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.904G>A (p.Gly302Ser) rs875989802
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)

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