ClinVar Miner

List of variants reported as uncertain significance for autoimmune disease, multisystem, infantile-onset

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.1082+8C>T rs55933862 0.00271
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_139276.3(STAT3):c.2049C>T (p.Phe683=) rs373256669 0.00017
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val) rs151033214 0.00011
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) rs371574765 0.00005
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.373C>G (p.Gln125Glu) rs574370336 0.00001
NM_001079.4(ZAP70):c.939C>T (p.Ser313=)
NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln)
NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr) rs2081912356
NM_139276.3(STAT3):c.1333G>A (p.Val445Met)
NM_139276.3(STAT3):c.1339C>G (p.His447Asp)

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