List of variants in gene ABCD1 reported as likely benign by Ambry Genetics

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)	rs193922096	0.00080
NM_000033.4(ABCD1):c.258C>T (p.Val86=)	rs200660869	0.00061
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)	rs140263823	0.00058
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)	rs782161942	0.00047
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)	rs145545199	0.00037
NM_000033.4(ABCD1):c.1047C>A (p.Val349=)	rs185931852	0.00034
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)	rs782134465	0.00028
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)	rs150878397	0.00019
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)	rs74315279	0.00014
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)	rs368061976	0.00012
NM_000033.4(ABCD1):c.50G>A (p.Arg17His)	rs782693577	0.00011
NM_000033.4(ABCD1):c.54G>A (p.Thr18=)	rs781855598	0.00010
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)	rs782453684	0.00007
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile)	rs781806403	0.00006
NM_000033.4(ABCD1):c.1938G>A (p.Ala646=)	rs144996101	0.00003
NM_000033.4(ABCD1):c.1020C>T (p.Ser340=)	rs781828983	0.00001
NM_000033.4(ABCD1):c.1317G>A (p.Glu439=)	rs200522486	0.00001
NM_000033.4(ABCD1):c.403C>T (p.Leu135=)	rs1448083307	0.00001
NM_000033.4(ABCD1):c.1348A>G (p.Ile450Val)
NM_000033.4(ABCD1):c.1700A>G (p.Gln567Arg)
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)	rs1557055333
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=)	rs782327280
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=)	rs1569541208
NM_000033.4(ABCD1):c.2088G>A (p.Lys696=)
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu)	rs368462762
NM_000033.4(ABCD1):c.901-5del	rs782805046

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