ClinVar Miner

List of variants studied for autoimmune disease, multisystem, infantile-onset by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.692C>T (p.Thr231Met) rs141613906 0.00002
NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu) rs368446882 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr) rs2081912356

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