ClinVar Miner

List of variants studied for adenylosuccinate lyase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000026.4(ADSL):c.*45A>T rs180726920
NM_000026.4(ADSL):c.-35G>T rs750649096
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr) rs755688868
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val) rs886057505
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.216C>T (p.Ile72=) rs145786986
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) rs181252862
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195

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