ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 9

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Total variants: 12
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HGVS dbSNP
NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr)
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816
NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly)
NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu)
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_012388.3(BLOC1S6):c.286C>T (p.His96Tyr)
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu)
NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter)
NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser)
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639

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