ClinVar Miner

List of variants in gene ABCD1 reported as pathogenic for adrenocortical insufficiency

Included ClinVar conditions (20):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)	rs128624225	0.00001
NM_000033.4(ABCD1):c.1820del (p.Gly607fs)	rs2148399029

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