List of variants in gene WAS reported as pathogenic for Thrombocytopenia 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000377.3(WAS):c.223G>A (p.Val75Met)	rs782290433	0.00001
NM_000377.3(WAS):c.1001del (p.Gly334fs)	rs1569494025
NM_000377.3(WAS):c.1271dup (p.Leu425fs)	rs1557007312
NM_000377.3(WAS):c.134C>T (p.Thr45Met)	rs132630273
NM_000377.3(WAS):c.1423C>T (p.Gln475Ter)	rs1602180058
NM_000377.3(WAS):c.167C>T (p.Ala56Val)	rs132630269
NM_000377.3(WAS):c.176del (p.Pro59fs)	rs2147262809
NM_000377.3(WAS):c.413G>C (p.Arg138Pro)	rs139265251
NM_000377.3(WAS):c.464-11T>G	rs2519281309
NM_000377.3(WAS):c.466_469del
NM_000377.3(WAS):c.482dup (p.Pro162fs)	rs2519281397
NM_000377.3(WAS):c.559+5G>A	rs886039451
NM_000377.3(WAS):c.707C>G (p.Ala236Gly)	rs132630270
NM_000377.3(WAS):c.777+1G>A	rs1057517845

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