List of variants in gene AP4B1 reported as pathogenic for hereditary 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: 37

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HGVS	dbSNP	gnomAD frequency
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)	rs376478015	0.00009
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)	rs374894037	0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)	rs529495094	0.00004
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)	rs777248758	0.00003
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)	rs746462207	0.00002
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)	rs138335735	0.00001
NM_001253852.3(AP4B1):c.114-2A>G	rs879255396	0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)	rs776976178	0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)	rs767220480	0.00001
NM_001253852.3(AP4B1):c.1098dup (p.Ala367fs)
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
NM_001253852.3(AP4B1):c.114-2A>C	rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	rs587779388
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs)	rs2101015147
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)	rs114201291
NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter)	rs771888480
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)	rs1553257236
NM_001253852.3(AP4B1):c.1510+2T>C	rs1667449135
NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)	rs2101044378
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)	rs797045244
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)	rs587783179
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)	rs1013939776
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)	rs1553259463
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)	rs2101035173
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)	rs762612591
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)	rs1571563769
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
NM_001253852.3(AP4B1):c.926del (p.Gly309fs)	rs2101025777
NM_001253852.3(AP4B1):c.967del (p.Ser323fs)	rs745580319
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter)	rs2101024933
NM_006594.5:c.667del	rs2101027843

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