List of variants in gene combination HPS6, LOC130004578 reported as uncertain significance for hematologic disorder

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_024747.6(HPS6):c.-5G>A	rs376684120	0.00027
NM_024747.6(HPS6):c.112C>G (p.Pro38Ala)	rs746813506	0.00012
NM_024747.6(HPS6):c.277G>T (p.Val93Leu)	rs185571437	0.00006
NM_024747.6(HPS6):c.1A>G (p.Met1Val)	rs763073715	0.00003
NM_024747.6(HPS6):c.138G>A (p.Leu46=)	rs886046648
NM_024747.6(HPS6):c.194C>G (p.Ala65Gly)	rs886046649
NM_024747.6(HPS6):c.238dup (p.Asp80fs)	rs281865108
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu)	rs544314793
NM_024747.6(HPS6):c.256_264dup (p.Trp86_Ala88dup)	rs1208203730
NM_024747.6(HPS6):c.7C>T (p.Arg3Cys)	rs975351475

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