ClinVar Miner

List of variants in gene FOXN1 reported as pathogenic for T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) rs104894562 0.00001
NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs) rs1064793129
NM_001369369.1(FOXN1):c.1370del (p.His457fs) rs2151499042
NM_001369369.1(FOXN1):c.1392_1401del (p.Pro465fs) rs1597567985
NM_001369369.1(FOXN1):c.1418del (p.Pro473fs) rs1597568117
NM_001369369.1(FOXN1):c.1465del (p.Gln489fs) rs1169577591
NM_001369369.1(FOXN1):c.907del (p.Glu303fs) rs1064796115
NM_001369369.1(FOXN1):c.961C>A (p.His321Asn) rs1597566413

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