ClinVar Miner

List of variants reported as benign for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.36G>A (p.Val12=) rs394105 0.98470
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076 0.24494
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_000022.4(ADA):c.36= (p.Val12=) rs394105 0.01530
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828 0.00639
NM_000022.4(ADA):c.95+9A>G rs765216 0.00319
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882 0.00153
NM_000022.4(ADA):c.606+10G>A rs201045221 0.00058
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000022.4(ADA):c.1079-7C>T rs551934402 0.00003
NM_000022.4(ADA):c.33+17dup rs1246752878
NM_000022.4(ADA):c.34-7del rs1297398786
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440

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