List of variants reported as pathogenic for Hermansky-Pudlak syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000195.5(HPS1):c.355del (p.His119fs)	rs281865075	0.00002
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)	rs886077189	0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)	rs281865076	0.00001
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs)	rs1846922474
NM_000195.5(HPS1):c.780dup (p.Arg261fs)	rs2136197089
NM_000195.5(HPS1):c.972del (p.Met325fs)	rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082

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