ClinVar Miner

List of variants in gene BLOC1S6 reported as likely benign for Hermansky-Pudlak syndrome 9

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Total variants: 4
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HGVS dbSNP
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) rs372182517
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) rs114872740

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