ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_032122.4(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945
NM_181507.1(HPS5):c.107del (p.Lys36fs) rs1554948134

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