ClinVar Miner

List of variants in gene HPS4 reported as pathogenic for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HPS4, 1-BP DEL, C, CODON 685
NM_022081.6(HPS4):c.1866del (p.Thr623fs) rs281865099
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.57dup (p.Leu20fs) rs281865097
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164
NM_152841.2(HPS4):c.42del (p.Leu15fs) rs281865097
NM_152841.2(HPS4):c.446A>G (p.His149Arg) rs281865098

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