ClinVar Miner

List of variants in gene AP4E1 studied for not specified

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.222+18G>A rs1147129 0.56600
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.2755A>G (p.Met919Val) rs115188375 0.00503
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_007347.5(AP4E1):c.-40G>A rs374083032 0.00384
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957 0.00109
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=) rs143624283 0.00042
NM_007347.5(AP4E1):c.1566C>G (p.Ser522=) rs78870657 0.00035
NM_007347.5(AP4E1):c.3217C>A (p.Gln1073Lys) rs117612527 0.00023
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078 0.00018
NM_007347.5(AP4E1):c.2541T>C (p.Ser847=) rs148654358 0.00014
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser) rs145541719 0.00013
NM_007347.5(AP4E1):c.1105A>C (p.Thr369Pro) rs149682827 0.00011
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_007347.5(AP4E1):c.1825G>C (p.Val609Leu) rs767378180 0.00010
NM_007347.5(AP4E1):c.1424C>T (p.Ala475Val) rs200678853 0.00008
NM_007347.5(AP4E1):c.1459T>C (p.Leu487=) rs766895434 0.00006
NM_007347.5(AP4E1):c.42A>G (p.Gly14=) rs143027953 0.00005
NM_007347.5(AP4E1):c.2702C>T (p.Ser901Phe) rs757562999 0.00004
NM_007347.5(AP4E1):c.-47C>A rs773502598 0.00003
NM_007347.5(AP4E1):c.1429+12A>C rs768941074 0.00003
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=) rs557252541 0.00001
NM_007347.5(AP4E1):c.2496G>A (p.Ser832=) rs766289893 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_007347.5(AP4E1):c.3266T>G (p.Leu1089Arg) rs550237440 0.00001
NM_007347.5(AP4E1):c.648C>T (p.Asp216=) rs546627510 0.00001
NM_007347.5(AP4E1):c.822A>G (p.Gln274=) rs991693986 0.00001
NM_007347.5(AP4E1):c.-37ATCGCGGGCGGCGGCGGC[3] rs745897561
NM_007347.5(AP4E1):c.-3G>T rs1057518523
NM_007347.5(AP4E1):c.1425G>A (p.Ala475=) rs369028190
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro) rs1176175925
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu) rs142762839
NM_007347.5(AP4E1):c.1747G>T (p.Asp583Tyr) rs2140878253
NM_007347.5(AP4E1):c.1851+2_1851+5dup rs778162120
NM_007347.5(AP4E1):c.1931A>G (p.His644Arg) rs1470099420
NM_007347.5(AP4E1):c.197C>T (p.Thr66Ile) rs1555453222
NM_007347.5(AP4E1):c.206C>T (p.Ala69Val) rs1596450585
NM_007347.5(AP4E1):c.222+9G>A rs797045245
NM_007347.5(AP4E1):c.2227C>G (p.Gln743Glu) rs1555462180
NM_007347.5(AP4E1):c.2T>C (p.Met1Thr)
NM_007347.5(AP4E1):c.3264G>C (p.Gly1088=) rs797045246
NM_007347.5(AP4E1):c.685T>C (p.Tyr229His) rs1555455264
NM_007347.5(AP4E1):c.711A>T (p.Ser237=) rs797045247
NM_007347.5(AP4E1):c.984T>C (p.Tyr328=) rs1555456740

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