ClinVar Miner

List of variants in gene CD3D reported as likely benign for T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys) rs141902449 0.00084
NM_000732.6(CD3D):c.342C>T (p.Ala114=) rs201721807 0.00008
NM_000732.6(CD3D):c.30G>T (p.Leu10=) rs202080099 0.00007
NM_000732.6(CD3D):c.202C>A (p.Arg68=) rs111033580 0.00006
NM_000732.6(CD3D):c.360G>A (p.Leu120=) rs150570955 0.00006
NM_000732.6(CD3D):c.55+12C>A rs1379953201 0.00006
NM_000732.6(CD3D):c.274+8C>T rs1209300043 0.00003
NM_000732.6(CD3D):c.275-5C>T rs188697778 0.00003
NM_000732.6(CD3D):c.411C>T (p.Ala137=) rs200520638 0.00002
NM_000732.6(CD3D):c.255C>T (p.Thr85=) rs200910273 0.00001
NM_000732.6(CD3D):c.309C>T (p.Thr103=) rs777386322 0.00001
NM_000732.6(CD3D):c.450+19G>A rs779545897 0.00001
NM_000732.6(CD3D):c.450+8T>C rs768378803 0.00001
NM_000732.6(CD3D):c.453C>T (p.Pro151=) rs745794915 0.00001
NM_000732.6(CD3D):c.81G>A (p.Glu27=) rs144504840 0.00001
NM_000732.6(CD3D):c.108T>C (p.Asn36=)
NM_000732.6(CD3D):c.138A>C (p.Gly46=)
NM_000732.6(CD3D):c.141G>A (p.Thr47=)
NM_000732.6(CD3D):c.156C>G (p.Leu52=) rs751800253
NM_000732.6(CD3D):c.159A>T (p.Ser53=)
NM_000732.6(CD3D):c.15G>A (p.Thr5=) rs747917280
NM_000732.6(CD3D):c.162C>T (p.Asp54=)
NM_000732.6(CD3D):c.172C>T (p.Leu58=) rs2134059883
NM_000732.6(CD3D):c.189C>T (p.Arg63=) rs1948289777
NM_000732.6(CD3D):c.213T>C (p.Tyr71=)
NM_000732.6(CD3D):c.222T>C (p.Asn74=)
NM_000732.6(CD3D):c.225G>A (p.Gly75=)
NM_000732.6(CD3D):c.274+15A>G
NM_000732.6(CD3D):c.274+16A>G
NM_000732.6(CD3D):c.274+18C>A
NM_000732.6(CD3D):c.274+20T>G
NM_000732.6(CD3D):c.275-13C>T
NM_000732.6(CD3D):c.275-19C>T
NM_000732.6(CD3D):c.275-9C>G
NM_000732.6(CD3D):c.275-9C>T
NM_000732.6(CD3D):c.27C>T (p.Gly9=)
NM_000732.6(CD3D):c.300T>C (p.Asp100=)
NM_000732.6(CD3D):c.303A>G (p.Pro101=)
NM_000732.6(CD3D):c.30G>A (p.Leu10=)
NM_000732.6(CD3D):c.327C>T (p.Val109=)
NM_000732.6(CD3D):c.346C>T (p.Leu116=)
NM_000732.6(CD3D):c.351C>T (p.Leu117=)
NM_000732.6(CD3D):c.378T>C (p.Ala126=) rs1237318986
NM_000732.6(CD3D):c.381A>C (p.Gly127=)
NM_000732.6(CD3D):c.384T>C (p.His128=)
NM_000732.6(CD3D):c.396G>A (p.Arg132=)
NM_000732.6(CD3D):c.399G>C (p.Leu133=)
NM_000732.6(CD3D):c.406+12A>G
NM_000732.6(CD3D):c.406+14C>A
NM_000732.6(CD3D):c.406+14C>T
NM_000732.6(CD3D):c.406+7G>A
NM_000732.6(CD3D):c.407-10G>A
NM_000732.6(CD3D):c.407-10G>T
NM_000732.6(CD3D):c.407-13C>G
NM_000732.6(CD3D):c.407-15C>T rs2134058903
NM_000732.6(CD3D):c.407-17C>T
NM_000732.6(CD3D):c.407-18T>C
NM_000732.6(CD3D):c.407-19CT[3]
NM_000732.6(CD3D):c.407-7C>T
NM_000732.6(CD3D):c.411C>A (p.Ala137=)
NM_000732.6(CD3D):c.430A>C (p.Arg144=)
NM_000732.6(CD3D):c.444C>G (p.Val148=)
NM_000732.6(CD3D):c.450+14G>T rs768322685
NM_000732.6(CD3D):c.450+18G>A
NM_000732.6(CD3D):c.450+7G>A
NM_000732.6(CD3D):c.450+7G>T rs201810356
NM_000732.6(CD3D):c.451-12C>T
NM_000732.6(CD3D):c.451-15C>T rs2134058621
NM_000732.6(CD3D):c.451-18T>C
NM_000732.6(CD3D):c.451-7C>G
NM_000732.6(CD3D):c.451-8T>C
NM_000732.6(CD3D):c.451-9C>T
NM_000732.6(CD3D):c.451-9_451-7del rs758585177
NM_000732.6(CD3D):c.465A>C (p.Arg155=)
NM_000732.6(CD3D):c.477G>A (p.Gln159=)
NM_000732.6(CD3D):c.480C>T (p.Tyr160=)
NM_000732.6(CD3D):c.486C>T (p.His162=)
NM_000732.6(CD3D):c.48C>T (p.Leu16=)
NM_000732.6(CD3D):c.51G>A (p.Ser17=)
NM_000732.6(CD3D):c.51G>C (p.Ser17=)
NM_000732.6(CD3D):c.51G>T (p.Ser17=) rs371909040
NM_000732.6(CD3D):c.55+16G>A
NM_000732.6(CD3D):c.55+20G>A
NM_000732.6(CD3D):c.55+20G>C
NM_000732.6(CD3D):c.55+20del
NM_000732.6(CD3D):c.55+8T>G
NM_000732.6(CD3D):c.56-10del rs1264668031
NM_000732.6(CD3D):c.56-15T>C
NM_000732.6(CD3D):c.56-16A>G
NM_000732.6(CD3D):c.56-7C>T rs2134060049
NM_000732.6(CD3D):c.84A>G (p.Glu28=)

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