ClinVar Miner

List of variants in gene HPS3 reported as likely benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_032383.5(HPS3):c.-70T>C rs13089410
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032383.5(HPS3):c.970+7A>G rs114029765

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