ClinVar Miner

List of variants in gene AP4S1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_001128126.3(AP4S1):c.306+4283C>T rs143795469 0.00050
NM_001128126.3(AP4S1):c.306+4191A>G rs200969079 0.00038
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001128126.3(AP4S1):c.124C>A (p.Arg42=) rs387906970 0.00003
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001128126.3(AP4S1):c.210A>T (p.Gly70=) rs765484259 0.00001
NM_001128126.3(AP4S1):c.21G>A (p.Met7Ile) rs797045251
NM_001128126.3(AP4S1):c.306+4182dup rs766477779
NM_001128126.3(AP4S1):c.306+4214C>A rs1887842697

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