ClinVar Miner

List of variants in gene FOXP3 reported as pathogenic for autoimmune disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
FOXP3, 543C-T
NM_014009.4(FOXP3):c.-23+1G>T rs1602693008
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.1087A>G (p.Ile363Val) rs2147944391
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) rs122467175
NM_014009.4(FOXP3):c.1110G>A (p.Met370Ile)
NM_014009.4(FOXP3):c.1112T>G (p.Phe371Cys) rs122467169
NM_014009.4(FOXP3):c.1117_1118delinsGC (p.Phe373Ala) rs122467172
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) rs122467170
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.1234del (p.Glu412fs) rs2147944106
NM_014009.4(FOXP3):c.1271G>A (p.Cys424Tyr)
NM_014009.4(FOXP3):c.1290_*12delinsTG (p.Pro431fs) rs2147944039
NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?) rs1602679037
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) rs2066088072
NM_014009.4(FOXP3):c.210+1G>A rs886041596
NM_014009.4(FOXP3):c.210+1G>T rs886041596
NM_014009.4(FOXP3):c.224C>T (p.Pro75Leu) rs2147949202
NM_014009.4(FOXP3):c.227del (p.Leu76fs) rs2147949186
NM_014009.4(FOXP3):c.2T>A (p.Met1Lys) rs2147949777
NM_014009.4(FOXP3):c.3G>A (p.Met1Ile) rs122467174
NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly) rs1569529715
NM_014009.4(FOXP3):c.727del (p.Glu243fs) rs797045588
NM_014009.4(FOXP3):c.736-2A>T rs2147947315
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171
NM_014009.4(FOXP3):c.967+4A>G rs1426535368
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173

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