ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 5 by GeneReviews

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Total variants: 7
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NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) rs281865103
NM_007216.4(HPS5):c.2282del (p.Leu761fs) rs281865105
NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) rs397507169
NM_007216.4(HPS5):c.537dup (p.Lys180fs) rs281865101
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288

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