ClinVar Miner

List of variants in gene ABCD1 reported as likely benign by GeneDx

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1634+153G>A rs142496200 0.01706
NM_000033.4(ABCD1):c.1634+58C>T rs7059198 0.01325
NM_000033.4(ABCD1):c.*123C>T rs186542134 0.01092
NM_000033.4(ABCD1):c.900+169G>A rs782756846 0.00770
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184 0.00004
NM_000033.4(ABCD1):c.-20C>T rs782004770
NM_000033.4(ABCD1):c.144G>A (p.Ala48=) rs1557052209
NM_000033.4(ABCD1):c.1635-64C>T rs193098717
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925

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