ClinVar Miner

List of variants in gene WAS reported by OMIM

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1097del (p.Gly366fs) rs587776744
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1442T>A (p.Ile481Asn) rs132630276
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.173C>G (p.Pro58Arg) rs132630275
NM_000377.3(WAS):c.177del (p.Gly60fs) rs2147262829
NM_000377.3(WAS):c.1A>T (p.Met1Leu) rs587776742
NM_000377.3(WAS):c.244T>C (p.Ser82Pro) rs132630272
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.257G>T (p.Arg86Leu) rs132630268
NM_000377.3(WAS):c.389ACGAGG[3] (p.130DE[3]) rs587776743
NM_000377.3(WAS):c.482dup (p.Pro162fs)
NM_000377.3(WAS):c.559+2T>G rs1602177733
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.560-1G>A rs1602178087
NM_000377.3(WAS):c.707C>G (p.Ala236Gly) rs132630270
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.724del (p.Ser242fs) rs2147264989
NM_000377.3(WAS):c.73_74del (p.Thr25fs) rs1602176299
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
WAS, 15,800-BP DEL

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