ClinVar Miner

List of variants in gene combination ALDH6A1, BBOF1 reported as uncertain significance for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_005589.4(ALDH6A1):c.*234C>T rs117311919 0.00150
NM_005589.4(ALDH6A1):c.*1655C>T rs12147048 0.00146
NM_005589.4(ALDH6A1):c.*1367A>G rs186963818 0.00145
NM_005589.4(ALDH6A1):c.*1602G>A rs550384718 0.00133
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser) rs111975186 0.00090
NM_005589.4(ALDH6A1):c.145G>A (p.Val49Ile) rs140308322 0.00086
NM_005589.4(ALDH6A1):c.*1011C>A rs181399266 0.00081
NM_005589.4(ALDH6A1):c.*1601C>T rs1001370504 0.00040
NM_005589.4(ALDH6A1):c.*1208C>T rs533760077 0.00035
NM_005589.4(ALDH6A1):c.151T>C (p.Ser51Pro) rs61745707 0.00031
NM_005589.4(ALDH6A1):c.*1887A>C rs566580516 0.00028
NM_005589.4(ALDH6A1):c.*991G>A rs945903840 0.00020
NM_005589.4(ALDH6A1):c.112-15G>T rs752587472 0.00017
NM_005589.4(ALDH6A1):c.*839T>G rs765576515 0.00016
NM_005589.4(ALDH6A1):c.*1050C>G rs918680042 0.00009
NM_005589.4(ALDH6A1):c.186+6C>T rs188543079 0.00009
NM_005589.4(ALDH6A1):c.*1534G>A rs1047039253 0.00007
NM_005589.4(ALDH6A1):c.*377C>A rs886050729 0.00006
NM_005589.4(ALDH6A1):c.*558A>G rs1050633882 0.00006
NM_005589.4(ALDH6A1):c.1373G>A (p.Arg458Gln) rs369223978 0.00005
NM_005589.4(ALDH6A1):c.646G>A (p.Gly216Arg) rs199899407 0.00004
NM_005589.4(ALDH6A1):c.*2861C>T rs939793039 0.00003
NM_005589.4(ALDH6A1):c.799G>A (p.Glu267Lys) rs763810979 0.00003
NM_005589.4(ALDH6A1):c.908A>G (p.Asn303Ser) rs376852895 0.00003
NM_005589.4(ALDH6A1):c.*1759C>T rs922749897 0.00002
NM_005589.4(ALDH6A1):c.*2328C>T rs750992221 0.00002
NM_005589.4(ALDH6A1):c.1400G>A (p.Gly467Glu) rs747566637 0.00002
NM_005589.4(ALDH6A1):c.*2774G>C rs2060253320 0.00001
NM_005589.4(ALDH6A1):c.1221C>G (p.Val407=) rs756896845 0.00001
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) rs367863044 0.00001
NM_005589.4(ALDH6A1):c.235A>G (p.Met79Val) rs771440193 0.00001
NM_005589.4(ALDH6A1):c.80G>A (p.Trp27Ter) rs764104981 0.00001
NM_005589.4(ALDH6A1):c.827A>G (p.His276Arg) rs779188591 0.00001
NM_005589.4(ALDH6A1):c.921G>A (p.Gly307=) rs1402487087 0.00001
NM_005589.4(ALDH6A1):c.*1386A>G rs2060286462
NM_005589.4(ALDH6A1):c.*1427A>G rs2060285999
NM_005589.4(ALDH6A1):c.*1938A>G rs72725924
NM_005589.4(ALDH6A1):c.*1963C>T rs185004947
NM_005589.4(ALDH6A1):c.*2261T>C rs2060267487
NM_005589.4(ALDH6A1):c.*2422C>A rs945573017
NM_005589.4(ALDH6A1):c.*43C>G rs545399557
NM_005589.4(ALDH6A1):c.*97T>C rs2060316331
NM_005589.4(ALDH6A1):c.112-14T>G rs886050732
NM_005589.4(ALDH6A1):c.112-1G>A rs1566834093
NM_005589.4(ALDH6A1):c.112-31GTTT[7] rs370924173
NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg) rs1037162967
NM_005589.4(ALDH6A1):c.1397T>C (p.Val466Ala) rs764356053
NM_005589.4(ALDH6A1):c.1462C>T (p.Arg488Ter)
NM_005589.4(ALDH6A1):c.1479A>G (p.Gly493=) rs886050730
NM_005589.4(ALDH6A1):c.1551AGA[2] (p.Glu519del) rs771596943
NM_005589.4(ALDH6A1):c.189C>T (p.Ala63=) rs886050731
NM_005589.4(ALDH6A1):c.248T>C (p.Ile83Thr)
NM_005589.4(ALDH6A1):c.349-3T>C
NM_005589.4(ALDH6A1):c.411T>C (p.Asp137=) rs750775712
NM_005589.4(ALDH6A1):c.748G>T (p.Asp250Tyr) rs761850051
NM_005589.4(ALDH6A1):c.759C>T (p.Asp253=) rs375211888
NM_005589.4(ALDH6A1):c.856G>T (p.Ala286Ser) rs1328953759
NM_005589.4(ALDH6A1):c.874_877dup (p.Met293fs) rs751748364

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