ClinVar Miner

List of variants in gene WAS reported as likely pathogenic for constitutional neutropenia

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) rs2062412197
NM_000377.3(WAS):c.209G>T (p.Gly70Val)
NM_000377.3(WAS):c.250T>C (p.Phe84Leu) rs2147262951
NM_000377.3(WAS):c.373G>C (p.Gly125Arg) rs2147263882
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
NM_000377.3(WAS):c.463+1G>A
NM_000377.3(WAS):c.506-1G>C
NM_000377.3(WAS):c.777+3_777+6del rs2147265717
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981

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