ClinVar Miner

List of variants reported as pathogenic for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+1G>A rs2065325898

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