List of variants reported as pathogenic for Adrenoleukodystrophy by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)	rs1557052306	0.00001
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)	rs727503786
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)	rs2148396057
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)	rs1569541088
NM_000033.4(ABCD1):c.1853del (p.Met618fs)	rs1603235941
NM_000033.4(ABCD1):c.1866-10G>A	rs398123108
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)	rs1170974058
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)	rs1603231848
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)	rs1557052390

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