ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome 5

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Total variants: 12
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NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.2(HPS5):c.1785-13C>T rs73430857
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493

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