List of variants in gene HPS4 reported as benign for Hermansky-Pudlak syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.*1613C>A	rs3752589	0.88461
NM_022081.6(HPS4):c.-296T>C	rs5761557	0.88308
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)	rs1894706	0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His)	rs1894704	0.86250
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)	rs713998	0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met)	rs5752330	0.81665
NM_022081.6(HPS4):c.-253C>T	rs3747134	0.81120
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val)	rs2014410	0.35365
NM_022081.6(HPS4):c.*1229CG[4]	rs10573454

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