List of variants in gene AP4S1 reported as likely benign for Spastic paraplegia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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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+4191A>G	rs200969079	0.00038
NM_001128126.3(AP4S1):c.228C>T (p.Asn76=)	rs144109125	0.00031
NM_001128126.3(AP4S1):c.306+4190A>G	rs374600997	0.00004
NM_001128126.3(AP4S1):c.139-20T>C	rs1479458784	0.00001
NM_001128126.3(AP4S1):c.180G>A (p.Arg60=)	rs1252944335	0.00001
NM_001128126.3(AP4S1):c.210A>T (p.Gly70=)	rs765484259	0.00001
NM_001128126.3(AP4S1):c.273A>G (p.Leu91=)	rs1418794794	0.00001
NM_001128126.3(AP4S1):c.306+4229C>T	rs1301666938	0.00001
NM_001128126.3(AP4S1):c.306+4232G>A	rs745990829	0.00001
NM_001128126.3(AP4S1):c.306+4280C>T	rs748041792	0.00001
NM_001128126.3(AP4S1):c.306+48T>C	rs762925365	0.00001
NM_001128126.3(AP4S1):c.306+57T>C	rs771062557	0.00001
NM_001128126.3(AP4S1):c.139-13G>T	rs1267528530
NM_001128126.3(AP4S1):c.171G>A (p.Leu57=)
NM_001128126.3(AP4S1):c.225+12G>C
NM_001128126.3(AP4S1):c.226-19C>T
NM_001128126.3(AP4S1):c.226-9T>C
NM_001128126.3(AP4S1):c.295-13T>C
NM_001128126.3(AP4S1):c.295-16T>C
NM_001128126.3(AP4S1):c.306+4167T>C
NM_001128126.3(AP4S1):c.306+4179T>G	rs1172170067
NM_001128126.3(AP4S1):c.306+4277C>T
NM_001128126.3(AP4S1):c.306+45C>T
NM_001128126.3(AP4S1):c.306+74G>A
NM_001128126.3(AP4S1):c.306+78G>A	rs1887590681
NM_001128126.3(AP4S1):c.306T>C (p.Asp102=)

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