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

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: 13

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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.1252C>T (p.Arg418Trp)	rs128624220
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	rs387906494
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)	rs128624224
NM_000033.4(ABCD1):c.1635-2A>G	rs1569541109
NM_000033.4(ABCD1):c.164dup (p.Glu56fs)	rs2148388748
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)	rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)	rs11146842
NM_000033.4(ABCD1):c.201del (p.Met67fs)
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)	rs193922097
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.832dup (p.Glu278fs)	rs2148389899
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)	rs797044610

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