List of variants in gene HPS5 reported as likely benign for Hermansky-Pudlak syndrome 5

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.1785-13C>T	rs73430857	0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=)	rs73432728	0.01964
NM_181507.2(HPS5):c.2441-8T>C	rs144196437	0.00654
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)	rs61755718	0.00512
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)	rs143784823	0.00417
NM_181507.2(HPS5):c.*70C>T	rs371535842	0.00098
NM_181507.2(HPS5):c.*688A>G	rs145507598	0.00024
NM_181507.2(HPS5):c.*362G>A	rs148862838	0.00021
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys)	rs143204089	0.00019
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)	rs547880287	0.00017
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)	rs200704721	0.00007
NM_181507.2(HPS5):c.240C>T (p.Val80=)	rs138423875	0.00006

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