ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Counsyl

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_032383.5(HPS3):c.970+7A>G rs114029765

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