ClinVar Miner

List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 6

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)
NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter)
NM_024747.6(HPS6):c.19_20del (p.Leu7fs) rs1590262288
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)

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