ClinVar Miner

List of variants in gene AP4E1 reported as uncertain significance for Hereditary spastic paraplegia

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.852A>G (p.Leu284=) rs114575519 0.00280
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957 0.00109
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=) rs371690344 0.00029
NM_007347.5(AP4E1):c.1105A>C (p.Thr369Pro) rs149682827 0.00011
NM_007347.5(AP4E1):c.932A>G (p.Asn311Ser) rs536656846 0.00009
NM_007347.5(AP4E1):c.1686A>C (p.Thr562=) rs375848961 0.00005
NM_007347.5(AP4E1):c.1336T>C (p.Trp446Arg) rs190643886 0.00003
NM_007347.5(AP4E1):c.1867T>C (p.Ser623Pro) rs766696884 0.00003
NM_007347.5(AP4E1):c.3277C>G (p.Gln1093Glu) rs773929706 0.00003
NM_007347.5(AP4E1):c.212C>T (p.Thr71Ile) rs755540057 0.00001
NM_007347.5(AP4E1):c.2508C>T (p.His836=) rs369673380 0.00001
NM_007347.5(AP4E1):c.2621C>T (p.Thr874Ile) rs999709311 0.00001
NM_007347.5(AP4E1):c.3288A>G (p.Pro1096=) rs764886183 0.00001
NM_007347.5(AP4E1):c.3374A>G (p.Tyr1125Cys) rs539408428 0.00001
NM_007347.5(AP4E1):c.822A>G (p.Gln274=) rs991693986 0.00001
NM_007347.5(AP4E1):c.944-6T>A rs775899244 0.00001
NM_007347.5(AP4E1):c.104G>A (p.Arg35Lys) rs1328098445
NM_007347.5(AP4E1):c.150C>T (p.His50=) rs2141121083
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_007347.5(AP4E1):c.2043T>C (p.Ser681=) rs2140914739
NM_007347.5(AP4E1):c.2901C>A (p.Phe967Leu) rs2140935330

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