ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome 4

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Total variants: 4
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HGVS dbSNP
NM_022081.5(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168

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