ClinVar Miner

List of variants in gene WAS reported as pathogenic for X-linked severe congenital neutropenia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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NM_000377.2(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.2(WAS):c.1058del (p.Pro353fs) rs1557007165
NM_000377.2(WAS):c.223G>A (p.Val75Met) rs782290433
NM_000377.2(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.2(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.2(WAS):c.355G>T (p.Gly119Ter)
NM_000377.2(WAS):c.470_471del (p.Arg157fs)
NM_000377.2(WAS):c.631C>T (p.Arg211Ter)
NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)
NM_000377.2(WAS):c.734+2T>A rs1569493877
NM_000377.2(WAS):c.777+1G>A rs1057517845
NM_000377.2(WAS):c.803delinsTT (p.Arg268fs)
NM_000377.2(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.2(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.2(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.2(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.858del (p.Ser287fs)

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