ClinVar Miner

List of variants reported as benign for X-linked severe congenital neutropenia by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) rs143885622
NM_000377.2(WAS):c.273+10_273+11dup rs58371799
NM_000377.2(WAS):c.273+11dupC rs58371799
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.873C>T (p.Tyr291=) rs149123892
NM_000377.2(WAS):c.90C>T (p.His30=) rs148800063
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799

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