ClinVar Miner

List of variants in gene ABCD1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) rs781850760 0.00004
NM_000033.4(ABCD1):c.110G>T (p.Arg37Leu) rs1257848735 0.00001
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360 0.00001
NM_000033.4(ABCD1):c.1527T>A (p.Asn509Lys) rs2091762371
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.181G>C (p.Ala61Pro) rs782134465
NM_000033.4(ABCD1):c.1901C>T (p.Ala634Val)
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000033.4(ABCD1):c.272C>G (p.Thr91Arg)
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.469C>G (p.Gln157Glu) rs2148389233
NM_000033.4(ABCD1):c.547G>T (p.Val183Phe) rs2148389399
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys) rs1557052478
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.748G>C (p.Val250Leu)

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