ClinVar Miner

List of variants in gene AP4E1 reported as uncertain significance for not specified

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Total variants: 26
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HGVS dbSNP gnomAD frequency
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.2932C>T (p.Pro978Ser) rs141278078 0.00018
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.1825G>C (p.Val609Leu) rs767378180 0.00010
NM_007347.5(AP4E1):c.1424C>T (p.Ala475Val) rs200678853 0.00008
NM_007347.5(AP4E1):c.2702C>T (p.Ser901Phe) rs757562999 0.00004
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=) rs557252541 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.-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

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