ClinVar Miner

List of variants in gene AIRE reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000383.4(AIRE):c.498G>A (p.Pro166=) rs372169498 0.00002
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520

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