ClinVar Miner

List of variants reported as pathogenic for adenylosuccinate lyase deficiency by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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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.298C>G (p.Pro100Ala) rs119450942
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

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