ClinVar Miner

List of variants in gene HPS4 reported as pathogenic for Hermansky-Pudlak syndrome 4

Included ClinVar conditions (1):
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Total variants: 12
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HPS4, 1-BP DEL, C, CODON 685
NM_152841.2(HPS4):c.1851del (p.Thr618fs) rs281865099
NM_152841.2(HPS4):c.1876C>T (p.Gln626Ter) rs119471021
NM_152841.2(HPS4):c.2069_2073AAGCA[3] (p.Lys694fs) rs281865100
NM_152841.2(HPS4):c.397G>T (p.Glu133Ter) rs119471024
NM_152841.2(HPS4):c.42del (p.Leu15fs) rs281865097
NM_152841.2(HPS4):c.42dup (p.Leu15fs) rs281865097
NM_152841.2(HPS4):c.446A>G (p.His149Arg) rs281865098
NM_152841.2(HPS4):c.526C>T (p.Gln176Ter) rs119471022
NM_152841.2(HPS4):c.634C>T (p.Arg212Ter) rs119471023
NM_152841.2(HPS4):c.649G>T (p.Glu217Ter) rs119471025
NM_152841.2(HPS4):c.934_957dup (p.Ala312_Glu319dup) rs281865164

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