ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Johns Hopkins Genomics,Johns Hopkins University

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_022081.5(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399

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