ClinVar Miner

List of variants in gene AP4E1 reported as benign for Spastic paraplegia

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.222+18G>A rs1147129 0.56600
NM_007347.5(AP4E1):c.1852-3243G>A rs7169888 0.48729
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) rs75130619 0.01213
NM_007347.5(AP4E1):c.542+11T>G rs58882998 0.00762
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_007347.5(AP4E1):c.1067-16G>A rs115042917 0.00485
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_007347.5(AP4E1):c.852A>G (p.Leu284=) rs114575519 0.00287
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_007347.5(AP4E1):c.421-20T>C rs146679593 0.00035
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078 0.00018
NM_007347.5(AP4E1):c.1815C>T (p.Ser605=) rs759539551 0.00012
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_007347.5(AP4E1):c.1429+11T>C rs116904472 0.00010
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_007347.5(AP4E1):c.1966+3_1966+6dup rs760221045
NM_007347.5(AP4E1):c.3253+19del
NM_007347.5(AP4E1):c.703-7dup
NM_007347.5(AP4E1):c.870-15del

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