List of variants in gene HPS5 reported as likely pathogenic for hematologic disorder

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.285-10A>G	rs200449378	0.00006
NM_181507.2(HPS5):c.1862+1G>A	rs778500897	0.00002
NM_181507.2(HPS5):c.1423del (p.Leu475fs)	rs766602179
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter)	rs779921624
NM_181507.2(HPS5):c.2077del (p.Arg693fs)	rs746844529
NM_181507.2(HPS5):c.2837+1G>A
NM_181507.2(HPS5):c.478-2A>G
NM_181507.2(HPS5):c.927_928del (p.Gly310fs)

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