ClinVar Miner

List of variants in gene HPS5, LOC130005404 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_181507.2(HPS5):c.370C>T (p.Arg124Ter) rs577034676 0.00003
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu) rs201664625

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