ClinVar Miner

List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 1

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Total variants: 9
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HGVS dbSNP
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
NM_000195.5(HPS1):c.399-14G>A rs1260083432
NM_000195.5(HPS1):c.507+2T>G rs1591109881
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer)
NM_000195.5(HPS1):c.875_878del (p.Asp292fs)
NM_000195.5(HPS1):c.988-44_1023delinsT rs1591055649

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