ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency by UniProtKB/Swiss-Prot

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.220G>T (p.Gly74Cys) rs121908730
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.248C>A (p.Ala83Asp) rs121908726
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.302G>T (p.Arg101Leu) rs121908714
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.419G>A (p.Gly140Glu) rs121908732
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.596A>C (p.Gln199Pro) rs121908734
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718

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