ClinVar Miner

List of variants in gene ACD reported as pathogenic for dyskeratosis congenita, autosomal recessive 7

Included ClinVar conditions (1):

Dyskeratosis congenita, autosomal recessive 7

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_001082486.2(ACD):c.1213C>A (p.Pro405Thr)	rs201441120	0.00002
NM_001082486.2(ACD):c.250_252del (p.Lys84del)	rs797045144

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