List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys)	rs17853184	0.00144
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu)	rs149039105	0.00025
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg)	rs149564550	0.00023
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)	rs142793392	0.00015
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe)	rs149512871	0.00014
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser)	rs781166596	0.00008
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)	rs139349345	0.00003
NM_181507.2(HPS5):c.3059-10G>A	rs764418389	0.00003
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly)	rs564959505	0.00001
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu)	rs201664625

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