ClinVar Miner

List of variants reported as likely benign for adenylosuccinate lyase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000026.3(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.3(ADSL):c.358-4G>A rs113199851
NM_000026.3(ADSL):c.440A>T (p.Lys147Met) rs11089991

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