ClinVar Miner

List of variants in gene AIRE reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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