ClinVar Miner

List of variants in gene ABCD1 reported by Ambry Genetics

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Total variants: 26
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HGVS dbSNP
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1081G>A (p.Asp361Asn) rs1557053262
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile)
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1781-5C>G
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=) rs1569541208
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.359G>A (p.Arg120His)
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.4(ABCD1):c.50G>A (p.Arg17His)
NM_000033.4(ABCD1):c.601G>A (p.Val201Met)
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098

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