ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome with pulmonary fibrosis by Revvity Omics, Revvity

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632

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