ClinVar Miner

List of variants in gene ADSL reported as pathogenic by Invitae

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Total variants: 8
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HGVS dbSNP
NC_000022.11:g.(?_40346510)_(40366542_?)del
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter) rs1569096551
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)

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