ClinVar Miner

List of variants in gene STAT1 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp) rs796065052
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)
NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)
NM_007315.4(STAT1):c.1165G>C (p.Val389Leu) rs1574648928
NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs) rs2125029430
NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)
NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) rs1692619276
NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg) rs763759889
NM_007315.4(STAT1):c.1398C>G (p.Ser466Arg)
NM_007315.4(STAT1):c.1760_1761del (p.Glu587fs) rs587776713
NM_007315.4(STAT1):c.1799T>C (p.Leu600Pro) rs137852678
NM_007315.4(STAT1):c.1927dup (p.Thr643fs) rs587776714
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs) rs2125000306
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.25C>T (p.Gln9Ter)
NM_007315.4(STAT1):c.373-2A>C
NM_007315.4(STAT1):c.493G>C (p.Asp165His) rs387906767
NM_007315.4(STAT1):c.494A>G (p.Asp165Gly) rs387906764
NM_007315.4(STAT1):c.508T>A (p.Tyr170Asn) rs387906766
NM_007315.4(STAT1):c.514T>C (p.Phe172Leu) rs2125075036
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg) rs387906763
NM_007315.4(STAT1):c.537C>A (p.Asn179Lys) rs587777628
NM_007315.4(STAT1):c.603G>T (p.Lys201Asn) rs587776870
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.606G>A (p.Met202Ile) rs1559019204
NM_007315.4(STAT1):c.71_74dup (p.Ser25fs) rs1382612689
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.802G>T (p.Glu268Ter) rs2125062900
NM_007315.4(STAT1):c.812A>C (p.Gln271Pro) rs387906768
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.832A>G (p.Lys278Glu) rs863223398
NM_007315.4(STAT1):c.854A>G (p.Gln285Arg) rs587777629
NM_007315.4(STAT1):c.857A>T (p.Lys286Ile) rs387906761
NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007315.4(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.4(STAT1):c.884C>A (p.Thr295Lys) rs2125062092
NM_007315.4(STAT1):c.88del (p.Ile30fs) rs886043118
NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)

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