ClinVar Miner

List of variants in gene MAOA studied for Inborn genetic diseases

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_000240.4(MAOA):c.825G>A (p.Pro275=) rs138703731 0.00238
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln) rs58524323 0.00220
NM_000240.4(MAOA):c.1526C>T (p.Thr509Ile) rs147298607 0.00034
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg) rs1800466 0.00022
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile) rs772161607 0.00016
NM_000240.4(MAOA):c.933G>T (p.Lys311Asn) rs144688481 0.00012
NM_000240.4(MAOA):c.412-6C>G rs369122751 0.00011
NM_000240.4(MAOA):c.137A>G (p.Asp46Gly) rs201519600 0.00006
NM_000240.4(MAOA):c.330C>T (p.Gly110=) rs748344922 0.00002
NM_000240.4(MAOA):c.681C>T (p.Ser227=) rs758225239 0.00002
NM_000240.4(MAOA):c.739G>A (p.Val247Ile) rs777420059 0.00002
NM_000240.4(MAOA):c.1385G>A (p.Gly462Asp) rs745388539 0.00001
NM_000240.4(MAOA):c.325C>T (p.Arg109Trp) rs140295792 0.00001
NM_000240.4(MAOA):c.1447G>A (p.Ala483Thr)
NM_000240.4(MAOA):c.1448C>A (p.Ala483Glu)
NM_000240.4(MAOA):c.1449G>A (p.Ala483=)
NM_000240.4(MAOA):c.1514T>C (p.Ile505Thr)
NM_000240.4(MAOA):c.1549G>A (p.Val517Met)
NM_000240.4(MAOA):c.168+3A>G
NM_000240.4(MAOA):c.280A>G (p.Ser94Gly) rs2033551853
NM_000240.4(MAOA):c.355A>G (p.Ile119Val)
NM_000240.4(MAOA):c.400A>G (p.Met134Val) rs1555947954
NM_000240.4(MAOA):c.405G>A (p.Gly135=)
NM_000240.4(MAOA):c.448G>A (p.Asp150Asn)
NM_000240.4(MAOA):c.565G>T (p.Val189Leu)
NM_000240.4(MAOA):c.603C>T (p.Cys201=)
NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)
NM_000240.4(MAOA):c.774G>A (p.Thr258=)

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