ClinVar Miner

List of variants in gene ADSL reported as likely benign for Adenylosuccinate lyase deficiency

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000026.4(ADSL):c.1191+9C>T rs371706528
NM_000026.4(ADSL):c.1350T>C (p.Thr450=) rs200300396
NM_000026.4(ADSL):c.1368+8del rs758319423
NM_000026.4(ADSL):c.154-9A>G rs762257005
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.273C>T (p.His91=) rs148303726
NM_000026.4(ADSL):c.27G>T (p.Ser9=) rs146873132
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195
NM_000026.4(ADSL):c.567C>T (p.Val189=) rs765353500
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726
NM_000026.4(ADSL):c.801C>T (p.Thr267=) rs369069575
NM_000026.4(ADSL):c.843C>T (p.Pro281=) rs1555908183
NM_000026.4(ADSL):c.862+10G>A rs747275092
NM_000026.4(ADSL):c.870T>C (p.Ser290=) rs146890981
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910

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