ClinVar Miner

List of variants in gene ADSL reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter) rs879257322
NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter) rs1555908924
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg) rs1057521071
NM_000026.4(ADSL):c.1414T>C (p.Tyr472His) rs1057521795
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter) rs1036185928
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln) rs28941471
NM_000026.4(ADSL):c.775G>T (p.Gly259Trp) rs796052244
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195

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