ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NC_000022.11:g.(?_40358844)_(40366542_?)del
NM_000026.2(ADSL):c.[1277G>A;994G>C]
NM_000026.4(ADSL):c.1152_1154CAT[2] (p.Ile386del) rs1601596522
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.402+1G>T rs761551284
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000026.4(ADSL):c.994G>C (p.Asp332His) rs776496275

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