ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP
HPS4, 1-BP DEL, C, CODON 685
NM_022081.5(HPS4):c.1866del (p.Thr623fs) rs281865099
NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.5(HPS4):c.2084_2088AAGCA[3] (p.Lys699fs) rs281865100
NM_022081.5(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.5(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.5(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.5(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.57dup (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.5(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.5(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164

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