ClinVar Miner

List of variants in gene HPS5 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: 21
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HGVS dbSNP
11p15.1 deletion
NM_181507.1(HPS5):c.107del (p.Lys36Serfs) rs1554948134
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.1423delC (p.Leu475Serfs) rs766602179
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.1900delG (p.Glu634Serfs) rs1131692146
NM_181507.1(HPS5):c.2025_2028delAGTT (p.Val676Metfs) rs281865103
NM_181507.1(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.2624delT (p.Leu875Cysfs) rs281865105
NM_181507.1(HPS5):c.2750_2751delAG (p.Glu917Valfs) rs1131692151
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2928_2929dupGA (p.Thr977Argfs) rs397507169
NM_181507.1(HPS5):c.2979_2982delTTTG (p.Cys993Trpfs) rs886041723
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.3096_3098delCCT (p.Leu1033del) rs753928208
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.1(HPS5):c.818_822delCTCTC (p.Thr273Lysfs) rs1131692147
NM_181507.1(HPS5):c.879dupC (p.Lys294Glnfs) rs281865101

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