ClinVar Miner

List of variants in gene HPS5 reported as likely benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_181507.1(HPS5):c.*1068T>A rs112456564
NM_181507.1(HPS5):c.*443T>A rs74602396
NM_181507.1(HPS5):c.*702A>T rs79086536
NM_181507.1(HPS5):c.*804C>T rs1046628
NM_181507.1(HPS5):c.-142C>T rs4150528
NM_181507.1(HPS5):c.-250G>T rs4150529
NM_181507.1(HPS5):c.-251C>A rs4150530
NM_181507.1(HPS5):c.1165-15C>A rs7128146
NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.1(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.1(HPS5):c.1635-4C>G rs79009787
NM_181507.1(HPS5):c.1785-13C>T rs73430857
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
NM_181507.1(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288

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