ClinVar Miner

List of variants in gene WAS studied for X-linked severe congenital neutropenia

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000377.2(WAS):c.-37_132+35del
NM_000377.2(WAS):c.1001del (p.Gly334fs) rs1569494025
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.1378C>T (p.Pro460Ser) rs143885622
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.266G>A (p.Gly89Asp)
NM_000377.2(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.2(WAS):c.273+10_273+11dup rs58371799
NM_000377.2(WAS):c.273+11dupC rs58371799
NM_000377.2(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.2(WAS):c.355G>T (p.Gly119Ter)
NM_000377.2(WAS):c.360+8A>G rs1557006508
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.459T>G (p.Ser153Arg)
NM_000377.2(WAS):c.463+3G>C
NM_000377.2(WAS):c.470_471del (p.Arg157fs)
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.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.559+8C>G
NM_000377.2(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.2(WAS):c.631C>T (p.Arg211Ter)
NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)
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.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.858del (p.Ser287fs)
NM_000377.2(WAS):c.873C>T (p.Tyr291=) rs149123892
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.2(WAS):c.897G>A (p.Gly299=) rs782793103
NM_000377.2(WAS):c.90C>T (p.His30=) rs148800063
NM_000377.2(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.2(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.2(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.2(WAS):c.985C>G (p.Pro329Ala) rs1557007136
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799

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