ClinVar Miner

List of variants in gene AP4S1 studied for hereditary spastic paraplegia 52

Included ClinVar conditions (2):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.295-34T>G rs11621299 0.88578
NM_001128126.3(AP4S1):c.139-110A>G rs7150619 0.46271
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His) rs201972703 0.00009
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter) rs754944359 0.00004
NM_001128126.3(AP4S1):c.138+2T>G rs377679827 0.00002
NM_001128126.3(AP4S1):c.139-2A>G rs758748011 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001128126.3(AP4S1):c.306+4281A>G rs1228214819 0.00001
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128126.3(AP4S1):c.138+63G>C rs6571386
NM_001128126.3(AP4S1):c.139-65C>G rs7155228
NM_001128126.3(AP4S1):c.152A>G (p.Glu51Gly)
NM_001128126.3(AP4S1):c.295-1G>A rs2139098086
NM_001128126.3(AP4S1):c.365_366delinsAG (p.Cys122Ter)
NM_001128126.3(AP4S1):c.44G>A (p.Arg15Gln)
NM_001254729.1(AP4S1):c.226_294del
Single allele

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