List of variants in gene ABCD1 reported as likely pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)	rs1603234466
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)	rs1603235267
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)	rs1603235421
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)	rs2148399060
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)	rs2148399201
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)	rs2148399208
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)	rs1603232237

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