ClinVar Miner

List of variants in gene AP4S1 reported as uncertain significance for Spastic paraplegia

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.133G>A (p.Glu45Lys) rs377744052 0.00025
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His) rs201972703 0.00009
NM_001128126.3(AP4S1):c.290G>A (p.Arg97Gln) rs183487893 0.00006
NM_001128126.3(AP4S1):c.82C>T (p.Arg28Cys) rs112987601 0.00006
NM_001128126.3(AP4S1):c.268G>A (p.Val90Ile) rs535501562 0.00003
NM_001128126.3(AP4S1):c.306+4273C>A rs758028160 0.00003
NM_001128126.3(AP4S1):c.70G>A (p.Asp24Asn) rs61976851 0.00003
NM_001128126.3(AP4S1):c.306+35G>A rs571583264 0.00001
NM_001128126.3(AP4S1):c.306+4182T>A rs913347896 0.00001
NM_001128126.3(AP4S1):c.306+4234A>G rs1887843929 0.00001
NC_000014.8:g.(?_31549759)_(31554088_?)dup
NM_001128126.3(AP4S1):c.125G>A (p.Arg42Gln)
NM_001128126.3(AP4S1):c.175T>C (p.Tyr59His) rs762806583
NM_001128126.3(AP4S1):c.225+5G>A rs2139056526
NM_001128126.3(AP4S1):c.225G>C (p.Glu75Asp)
NM_001128126.3(AP4S1):c.290G>T (p.Arg97Leu) rs183487893
NM_001128126.3(AP4S1):c.306+40A>G rs757190469
NM_001128126.3(AP4S1):c.306+4297G>C
NM_001128126.3(AP4S1):c.306+50G>C rs1315033150
NM_001128126.3(AP4S1):c.34G>A (p.Gly12Arg)
NM_001128126.3(AP4S1):c.86C>G (p.Thr29Arg)
NM_001128126.3(AP4S1):c.98C>G (p.Thr33Arg) rs763713689

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