ClinVar Miner

List of variants in gene MAOA reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000240.4(MAOA):c.1441G>A (p.Val481Ile) rs183147374 0.00027
NM_000240.4(MAOA):c.1438-3T>C rs202232897 0.00019
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile) rs772161607 0.00016
NM_000240.4(MAOA):c.805G>A (p.Val269Ile) rs150176511 0.00010
NM_000240.4(MAOA):c.109G>A (p.Val37Ile) rs779299641 0.00006
NM_000240.4(MAOA):c.374A>G (p.Asn125Ser) rs201799429 0.00004
NM_000240.4(MAOA):c.402G>A (p.Met134Ile) rs771740634 0.00002
NM_000240.4(MAOA):c.482T>C (p.Ile161Thr) rs574432879 0.00002
NM_000240.4(MAOA):c.703G>A (p.Gly235Arg) rs368201051 0.00002
NM_000240.4(MAOA):c.739G>A (p.Val247Ile) rs777420059 0.00002
NM_000240.4(MAOA):c.890G>A (p.Arg297Gln) rs780647851 0.00002
NM_000240.4(MAOA):c.1153G>A (p.Glu385Lys) rs778306070 0.00001
NM_000240.4(MAOA):c.1223C>T (p.Thr408Met) rs2033963856 0.00001
NM_000240.4(MAOA):c.260A>G (p.Glu87Gly) rs747229681 0.00001
NM_000240.4(MAOA):c.325C>T (p.Arg109Trp) rs140295792 0.00001
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr) rs755919316 0.00001
NM_000240.4(MAOA):c.1052+4G>C
NM_000240.4(MAOA):c.1081C>G (p.Leu361Val)
NM_000240.4(MAOA):c.1094A>G (p.His365Arg)
NM_000240.4(MAOA):c.1253A>G (p.Gln418Arg)
NM_000240.4(MAOA):c.1279G>A (p.Val427Met)
NM_000240.4(MAOA):c.1279G>T (p.Val427Leu)
NM_000240.4(MAOA):c.134G>A (p.Arg45Gln)
NM_000240.4(MAOA):c.1361G>A (p.Arg454Gln) rs2033978967
NM_000240.4(MAOA):c.1390G>A (p.Gly464Arg)
NM_000240.4(MAOA):c.1418T>C (p.Val473Ala)
NM_000240.4(MAOA):c.1433C>G (p.Ser478Ter)
NM_000240.4(MAOA):c.1437+4A>T
NM_000240.4(MAOA):c.1440C>A (p.Asp480Glu) rs367715125
NM_000240.4(MAOA):c.1549G>C (p.Val517Leu)
NM_000240.4(MAOA):c.1564A>G (p.Lys522Glu)
NM_000240.4(MAOA):c.1567C>T (p.Leu523Phe) rs2033984974
NM_000240.4(MAOA):c.163A>C (p.Ile55Leu)
NM_000240.4(MAOA):c.163A>G (p.Ile55Val)
NM_000240.4(MAOA):c.188T>C (p.Val63Ala)
NM_000240.4(MAOA):c.290T>C (p.Leu97Pro) rs2147085459
NM_000240.4(MAOA):c.3G>A (p.Met1Ile) rs1601921232
NM_000240.4(MAOA):c.411+12G>A rs2033703535
NM_000240.4(MAOA):c.421G>A (p.Asp141Asn)
NM_000240.4(MAOA):c.56T>C (p.Ile19Thr)
NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)
NM_000240.4(MAOA):c.645+13T>A
NM_000240.4(MAOA):c.650G>A (p.Arg217Gln)
NM_000240.4(MAOA):c.736C>A (p.His246Asn)
NM_000240.4(MAOA):c.766A>G (p.Ile256Val) rs2147102887
NM_000240.4(MAOA):c.796-10T>C
NM_000240.4(MAOA):c.812A>G (p.Asn271Ser) rs2147103024
NM_000240.4(MAOA):c.890_891delinsAT (p.Arg297His)
NM_000240.4(MAOA):c.955+4G>A

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