ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_000033.4(ABCD1):c.110G>T (p.Arg37Leu) rs1257848735
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.900G>C (p.Glu300Asp) rs1569540743

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