ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000377.2(WAS):c.1057_1059CCA[1] (p.Pro354del) rs1569494034
NM_000377.2(WAS):c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del) rs193922412
NM_000377.2(WAS):c.1196C>G (p.Pro399Arg)
NM_000377.2(WAS):c.1208C>T (p.Pro403Leu) rs782666797
NM_000377.2(WAS):c.1255C>A (p.Leu419Met) rs1422863482
NM_000377.2(WAS):c.266G>A (p.Gly89Asp)
NM_000377.2(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.2(WAS):c.459T>G (p.Ser153Arg)
NM_000377.2(WAS):c.463+3G>C
NM_000377.2(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.2(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.2(WAS):c.559+8C>G
NM_000377.2(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.2(WAS):c.679C>T (p.Arg227Cys)
NM_000377.2(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.2(WAS):c.689_691AGA[2] (p.Lys232del) rs782409127
NM_000377.2(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.2(WAS):c.985C>G (p.Pro329Ala) rs1557007136

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