ClinVar Miner

List of variants in gene ADSL reported as pathogenic by GeneDx

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp) rs796052247
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys) rs796052248
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.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser) rs372895468
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500
NM_000026.4(ADSL):c.5C>T (p.Ala2Val) rs143083947
NM_000026.4(ADSL):c.853C>T (p.Gln285Ter) rs796052246

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