ClinVar Miner

List of variants reported as likely pathogenic 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: 5
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg) rs2081520204
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820

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