ClinVar Miner

List of variants reported as likely benign for adenylosuccinate lyase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000026.2(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.3(ADSL):c.1350T>C (p.Thr450=) rs200300396
NM_000026.3(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.3(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.3(ADSL):c.358-4G>A rs113199851
NM_000026.3(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.3(ADSL):c.702-7T>C rs201509960
NM_000026.3(ADSL):c.72G>A (p.Pro24=) rs1279175740
NM_000026.3(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.3(ADSL):c.801C>T (p.Thr267=) rs369069575
NM_000026.3(ADSL):c.843C>T (p.Pro281=) rs1555908183
NM_000026.3(ADSL):c.870T>C (p.Ser290=) rs146890981
NM_000026.3(ADSL):c.895A>G (p.Met299Val) rs34396910

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