List of variants in gene combination HPS6, LOC130004578 reported as likely pathogenic for Hermansky-Pudlak syndrome 6

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024747.6(HPS6):c.1A>G (p.Met1Val)	rs763073715	0.00003
NM_024747.6(HPS6):c.155del (p.Val52fs)	rs1590262450	0.00001
NM_024747.6(HPS6):c.19_20del (p.Leu7fs)	rs1590262288
NM_024747.6(HPS6):c.1A>T (p.Met1Leu)
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)	rs2136333791
NM_024747.6(HPS6):c.238dup (p.Asp80fs)	rs281865108
NM_024747.6(HPS6):c.27del (p.Leu10fs)	rs2540985942
NM_024747.6(HPS6):c.32C>A (p.Ser11Ter)

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