ClinVar Miner

List of variants reported as likely pathogenic for Wiskott-Aldrich syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)
NM_000377.3(WAS):c.1052del (p.Pro351fs) rs2147266405
NM_000377.3(WAS):c.1079dup (p.Pro361fs)
NM_000377.3(WAS):c.1119dup (p.Ala374fs)
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs) rs2147266901
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr) rs2147262523
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.226_228del (p.Lys76del)
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.315dup (p.Val106fs)
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) rs1557006534
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) rs2062417344
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.778-1G>A rs2147265861
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035

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