ClinVar Miner

List of variants reported as pathogenic for adenylosuccinate lyase deficiency by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500

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