ClinVar Miner

List of variants studied for peroxisomal disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (82):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu) rs868953385
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.8del (p.Val3fs)
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del) rs2148391915
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)

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