ClinVar Miner

List of variants in gene ALDOB reported as uncertain significance for Inborn genetic diseases

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.334G>A (p.Gly112Arg) rs373330514 0.00021
NM_000035.4(ALDOB):c.341C>T (p.Ala114Val) rs201694645 0.00015
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys) rs201397971 0.00011
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg) rs200382297 0.00007
NM_000035.4(ALDOB):c.853A>C (p.Asn285His) rs781725589 0.00004
NM_000035.4(ALDOB):c.226G>A (p.Gly76Ser) rs759204107 0.00003
NM_000035.4(ALDOB):c.556A>G (p.Ile186Val) rs773615357 0.00002
NM_000035.4(ALDOB):c.167G>T (p.Arg56Leu) rs200050226 0.00001
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln) rs141267935 0.00001
NM_000035.4(ALDOB):c.223G>A (p.Gly75Arg) rs747604233 0.00001
NM_000035.4(ALDOB):c.250C>T (p.Leu84Phe) rs769043841 0.00001
NM_000035.4(ALDOB):c.295A>G (p.Lys99Glu) rs781126536 0.00001
NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe) rs1399020736 0.00001
NM_000035.4(ALDOB):c.389G>C (p.Gly130Ala) rs199981226 0.00001
NM_000035.4(ALDOB):c.826A>C (p.Ser276Arg) rs920770196 0.00001
NM_000035.4(ALDOB):c.848A>G (p.Asn283Ser) rs1380364278 0.00001
NM_000035.4(ALDOB):c.167G>A (p.Arg56His) rs200050226
NM_000035.4(ALDOB):c.170G>T (p.Arg57Leu) rs370761101
NM_000035.4(ALDOB):c.227G>A (p.Gly76Asp)
NM_000035.4(ALDOB):c.227G>C (p.Gly76Ala) rs764779161
NM_000035.4(ALDOB):c.244G>A (p.Glu82Lys)
NM_000035.4(ALDOB):c.26C>T (p.Thr9Ile)
NM_000035.4(ALDOB):c.282C>G (p.Phe94Leu) rs549682194
NM_000035.4(ALDOB):c.420A>T (p.Lys140Asn) rs2490124524
NM_000035.4(ALDOB):c.455T>C (p.Leu152Pro) rs758921815
NM_000035.4(ALDOB):c.473G>A (p.Cys158Tyr) rs2490124358
NM_000035.4(ALDOB):c.485T>C (p.Leu162Pro) rs1564078167
NM_000035.4(ALDOB):c.578C>T (p.Pro193Leu)
NM_000035.4(ALDOB):c.5C>T (p.Ala2Val) rs930944969
NM_000035.4(ALDOB):c.632C>T (p.Ala211Val) rs1200111221
NM_000035.4(ALDOB):c.638T>A (p.Val213Asp)
NM_000035.4(ALDOB):c.64A>G (p.Ser22Gly) rs1831208641
NM_000035.4(ALDOB):c.694A>G (p.Asn232Asp) rs1055615924
NM_000035.4(ALDOB):c.745G>A (p.Val249Ile) rs2490120286
NM_000035.4(ALDOB):c.800G>A (p.Gly267Asp)
NM_000035.4(ALDOB):c.80G>C (p.Gly27Ala)
NM_000035.4(ALDOB):c.923C>T (p.Ala308Val) rs748901188
NM_000035.4(ALDOB):c.947G>T (p.Gly316Val) rs1434492091

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