ClinVar Miner

List of variants in gene AIRE reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
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.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_000383.4(AIRE):c.1104G>A (p.Pro368=) rs377079396 0.00014
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600

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