ClinVar Miner

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

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.3(STAT3):c.1057G>T (p.Val353Phe) rs869312891
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1175A>G (p.Lys392Arg) rs587777648
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys) rs869312893
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1938C>G (p.Asn646Lys) rs587777649
NM_139276.3(STAT3):c.1974G>C (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_139276.3(STAT3):c.551-1G>C rs1598423756

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