List of variants in gene ABCD1 reported as pathogenic by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)	rs398123102	0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	rs128624225	0.00001
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)	rs1569541000
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)	rs727503786
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)	rs128624219
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)	rs797044726
NM_000033.4(ABCD1):c.1359del (p.Gly454fs)	rs1603234574
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)	rs128624221
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)	rs398123100
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	rs387906494
NM_000033.4(ABCD1):c.1440del (p.Ile481fs)	rs1557054318
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	rs128624224
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)	rs201568579
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)	rs398123105
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)	rs1557054873
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)	rs1557055253
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)	rs150346282
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)	rs11146842
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)	rs1064793877
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	rs1569541203
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)	rs193922097
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)	rs398123112
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)	rs1557052390
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)	rs1057516052
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)	rs1569540704
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)	rs398123113
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)	rs128624218
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)	rs193922098
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610

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