ClinVar Miner

List of variants in gene HPS6, LOC130004578 studied for Hermansky-Pudlak syndrome 6

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00169
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00030
NM_024747.6(HPS6):c.-5G>A rs376684120 0.00027
NM_024747.6(HPS6):c.112C>G (p.Pro38Ala) rs746813506 0.00011
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.155del (p.Val52fs) rs1590262450 0.00001
NM_024747.6(HPS6):c.215C>T (p.Pro72Leu) rs559316388 0.00001
NM_024747.6(HPS6):c.223C>T (p.Gln75Ter) rs281865107 0.00001
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.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.254C>T (p.Pro85Leu) rs544314793
NM_024747.6(HPS6):c.27del (p.Leu10fs) rs2540985942
NM_024747.6(HPS6):c.32C>A (p.Ser11Ter)
NM_024747.6(HPS6):c.7C>T (p.Arg3Cys) rs975351475

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