ClinVar Miner

List of variants studied for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Mendelics

Included ClinVar conditions (2):

Partial adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)	rs73598374	0.04175
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)	rs61732239	0.00399
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)	rs777820729	0.00003

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