List of variants in gene HPS5 reported by Genetic Services Laboratory, University of Chicago

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.2441-8T>C	rs144196437	0.00708
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.241G>A (p.Ala81Thr)	rs147053126	0.00102
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp)	rs75482179	0.00056
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)	rs147430035	0.00047
NM_181507.2(HPS5):c.85C>A (p.Arg29=)	rs138638048	0.00029
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys)	rs143204089	0.00019
NM_181507.2(HPS5):c.2370G>A (p.Ala790=)	rs757606601	0.00004
NM_181507.2(HPS5):c.2084C>T (p.Ser695Phe)	rs753514793	0.00003
NM_181507.2(HPS5):c.3059-10G>A	rs764418389	0.00003
NM_181507.2(HPS5):c.107del (p.Lys36fs)	rs1554948134
NM_181507.2(HPS5):c.1175C>G (p.Thr392Ser)	rs2134343861
NM_181507.2(HPS5):c.1892T>G (p.Phe631Cys)	rs746874798

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