ClinVar Miner

List of variants in gene AP3B1 reported as pathogenic for Hermansky-Pudlak syndrome 2

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
AP3B1, 1-BP INS, 1618G
AP3B1, IVS14DS, T-C, +6
NM_003664.4(AP3B1):c.1168_1230del63 (p.Leu390_Gln410del) rs1554072100
NM_003664.4(AP3B1):c.1474-7072_1650+921del
NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.4(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.4(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.4(AP3B1):c.1839_1842delTAGA rs869312839
NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) rs121908905

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