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 Myriad Genetics, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327 0.00002
NM_000022.4(ADA):c.141_142del (p.Asn48fs)
NM_000022.4(ADA):c.187del (p.Ala63fs)
NM_000022.4(ADA):c.322del (p.Ala108fs)
NM_000022.4(ADA):c.410del (p.Leu137fs)
NM_000022.4(ADA):c.511A>T (p.Lys171Ter) rs2065361731
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter) rs748810619
NM_000022.4(ADA):c.622_632del (p.Gly208fs)
NM_000022.4(ADA):c.755_756insTG (p.Arg253fs)
NM_000022.4(ADA):c.767del (p.Asn256fs) rs2123517868
NM_000022.4(ADA):c.791G>A (p.Trp264Ter) rs2065342571
NM_000022.4(ADA):c.813_814insAC (p.Trp272fs)
NM_000022.4(ADA):c.829del (p.Glu277fs)
NM_000022.4(ADA):c.83T>A (p.Leu28Ter)
NM_000022.4(ADA):c.859C>T (p.Gln287Ter) rs2065327852
NM_000022.4(ADA):c.877_878delinsT (p.Asn293fs)
NM_000022.4(ADA):c.946_947insTGTT (p.Gly316fs)

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