ClinVar Miner

List of variants reported as benign for adenylosuccinate lyase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000026.3(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.3(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.3(ADSL):c.357+7G>A rs199993991
NM_000026.3(ADSL):c.358-4G>A rs113199851
NM_000026.3(ADSL):c.403-4G>A rs373652667
NM_000026.3(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.3(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.3(ADSL):c.880T>C (p.Tyr294His) rs8192461

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