ClinVar Miner

List of variants in gene AIRE reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00007
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001

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