List of variants in gene FOXP3 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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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.1099T>C (p.Phe367Leu)	rs122467175
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.1290_*12delinsTG (p.Pro431fs)	rs2147944039
NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?)	rs1602679037
NM_014009.4(FOXP3):c.227del (p.Leu76fs)	rs2147949186
NM_014009.4(FOXP3):c.3G>A (p.Met1Ile)	rs122467174
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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