ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000377.2(WAS):c.1200G>A (p.Pro400=) rs375356111
NM_000377.2(WAS):c.1299G>A (p.Ala433=) rs372649110
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) rs143885622
NM_000377.2(WAS):c.264C>T (p.Tyr88=) rs150520117
NM_000377.2(WAS):c.273+10_273+11dup rs58371799
NM_000377.2(WAS):c.285G>A (p.Leu95=) rs781799471
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.413G>A (p.Arg138Gln) rs139265251
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.695_697delAGA rs782409127
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
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)
NM_000377.3(WAS):c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser)
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser)
NM_000377.3(WAS):c.184G>C (p.Glu62Gln)
NM_000377.3(WAS):c.273+11dup rs58371799

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