ClinVar Miner

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

Included ClinVar conditions (3):
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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
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.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025

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