ClinVar Miner

List of variants in gene ADSL reported as pathogenic for adenylosuccinate lyase deficiency

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
ADSL, -49T-C, PROMOTER
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro) rs119450940
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala) rs119450942
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) rs1569096551
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.674T>C (p.Met225Thr) rs119450945
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753

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