ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) rs142938290
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001

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