List of variants in gene ABCD1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		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.1045del (p.Val349fs)	rs2091726859
NM_000033.4(ABCD1):c.104del (p.Leu35fs)	rs2091703332
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)	rs387906494
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1667A>T (p.Gln556Leu)	rs2091764439
NM_000033.4(ABCD1):c.1670T>G (p.Val557Gly)	rs2091764492
NM_000033.4(ABCD1):c.1849C>G (p.Arg617Gly)	rs4010613
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)	rs1569541203
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)	rs1304001811
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)	rs128624216
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)	rs1131691916
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)

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