ClinVar Miner

List of variants reported as uncertain significance for STAT3-related early-onset multisystem autoimmune disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
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_139276.3(STAT3):c.373C>G (p.Gln125Glu) rs574370336 0.00001
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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