ClinVar Miner

List of variants in gene AP3B1 reported as likely benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.1969-10G>A rs77009095
NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) rs142938290
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_003664.4(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.4(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001

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