ClinVar Miner

List of variants in gene DDX3X reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=) rs186110059 0.00026
NM_001356.5(DDX3X):c.1497+5G>A rs201687537 0.00010
NM_001356.5(DDX3X):c.1095C>T (p.Val365=) rs546763977 0.00006
NM_001356.5(DDX3X):c.912C>T (p.Ala304=) rs368761223 0.00004
NM_001356.5(DDX3X):c.1026-3C>T rs1288221968 0.00001
NM_001356.5(DDX3X):c.1170+4C>T rs745429365 0.00001
NM_001356.5(DDX3X):c.1885G>A (p.Gly629Ser) rs1476609971 0.00001
NM_001356.5(DDX3X):c.*165_*169del
NM_001356.5(DDX3X):c.1025+146C>G
NM_001356.5(DDX3X):c.1025+152C>T
NM_001356.5(DDX3X):c.1025+34G>C
NM_001356.5(DDX3X):c.1052G>C (p.Arg351Pro)
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.118C>T (p.Pro40Ser) rs1602122138
NM_001356.5(DDX3X):c.1249C>A (p.Gln417Lys) rs2147356661
NM_001356.5(DDX3X):c.1268A>G (p.Glu423Gly) rs2147356732
NM_001356.5(DDX3X):c.1326A>G (p.Ser442=) rs2063922185
NM_001356.5(DDX3X):c.1424G>A (p.Arg475His) rs1602135832
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.152-663_152-662del
NM_001356.5(DDX3X):c.152-668T>C
NM_001356.5(DDX3X):c.152-681A>G
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu) rs2063927856
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.1699G>C (p.Val567Leu) rs1555954386
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.1720A>G (p.Met574Val) rs2063933502
NM_001356.5(DDX3X):c.197dup (p.Asp67fs) rs2063850491
NM_001356.5(DDX3X):c.1980G>A (p.Trp660Ter) rs2147361824
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.245C>G (p.Ser82Cys)
NM_001356.5(DDX3X):c.383G>A (p.Cys128Tyr)
NM_001356.5(DDX3X):c.389_393del (p.Lys130fs) rs2063866799
NM_001356.5(DDX3X):c.45+2T>A
NM_001356.5(DDX3X):c.45+331dup
NM_001356.5(DDX3X):c.45+370G>T
NM_001356.5(DDX3X):c.45+503G>A
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001356.5(DDX3X):c.581A>G (p.Asn194Ser) rs2063875302
NM_001356.5(DDX3X):c.69T>C (p.Ser23=)
NM_001356.5(DDX3X):c.721C>A (p.Gln241Lys)
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.769A>C (p.Asn257His) rs2147353397
NM_001356.5(DDX3X):c.784C>T (p.Arg262Cys) rs1555953406
NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter) rs1602119250
NM_001356.5(DDX3X):c.822_824del (p.Thr275del) rs1569238251
NM_001356.5(DDX3X):c.865-1G>C rs1255183431
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.916A>G (p.Ile306Val) rs2147353985
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001356.5(DDX3X):c.95del (p.Thr32fs) rs2063787500
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NR_126093.1(DDX3X):n.3196A>G

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