ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 15
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HGVS dbSNP
NM_000033.3(ABCD1):c.1117_1119delAAG (p.Lys373del) rs782627940
NM_000033.3(ABCD1):c.1516A>C (p.Thr506Pro) rs797044766
NM_000033.3(ABCD1):c.1792A>G (p.Met598Val) rs781856973
NM_000033.3(ABCD1):c.1818G>A (p.Ser606=) rs140263823
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.1904T>C (p.Val635Ala) rs797044791
NM_000033.3(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.3(ABCD1):c.1955T>A (p.Ile652Asn) rs797044790
NM_000033.3(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.3(ABCD1):c.1992-15C>T rs782734602
NM_000033.3(ABCD1):c.1992-7T>A rs886044874
NM_000033.3(ABCD1):c.2237G>C (p.Ter746Ser) rs781851566
NM_000033.3(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.750G>C (p.Val250=) rs782196006

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