ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome 5 by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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Total variants: 7
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HGVS dbSNP
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.1(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.879dup (p.Lys294fs) rs281865101

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