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

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

Total variants: 10

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HGVS	dbSNP
NM_007216.4(HPS5):c.1003_1004del	rs886048070
NM_007216.4(HPS5):c.1081del (p.Leu361fs)	rs766602179
NM_007216.4(HPS5):c.1879_1881ACA[1] (p.Thr628del)	rs886048077
NM_007216.4(HPS5):c.201del (p.Gln67fs)	rs755827664
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs)	rs886041723
NM_007216.4(HPS5):c.483-14del	rs886048082
NM_181507.1(HPS5):c.2036C>G (p.Ser679Ter)	rs779921624
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp)	rs752089199
NM_181507.1(HPS5):c.2718-12A>G	rs759757206
NM_181507.2(HPS5):c.2837+15del	rs886048076

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