ClinVar Miner

List of variants in gene AP3B1 reported by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
NM_003664.5(AP3B1):c.1473+6T>C rs1000881595
NM_003664.5(AP3B1):c.1474-7072_1650+921del
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter) rs121908905

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