List of variants in gene HPS5 studied for Hermansky-Pudlak syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp)	rs752089199	0.00019
NM_181507.2(HPS5):c.285-10A>G	rs200449378	0.00006
NM_181507.2(HPS5):c.2718-12A>G	rs759757206	0.00002
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter)	rs779921624	0.00001
NM_181507.2(HPS5):c.543del (p.Gln181fs)	rs755827664	0.00001
NM_181507.2(HPS5):c.825-14del	rs886048082	0.00001
NM_181507.2(HPS5):c.1003_1004del	rs886048070
NM_181507.2(HPS5):c.1423del (p.Leu475fs)	rs766602179
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del)	rs886048077
NM_181507.2(HPS5):c.2837+15del	rs886048076
NM_181507.2(HPS5):c.2837+1G>A	rs1253458479
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)	rs886041723
NM_181507.2(HPS5):c.478-2A>G	rs2494158241
NM_181507.2(HPS5):c.739dup (p.Glu247fs)	rs761811248
NM_181507.2(HPS5):c.82dup (p.Leu28fs)	rs767560852

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