ClinVar Miner

List of variants reported as benign for Polyglandular autoimmune syndrome, type 1 by Genome-Nilou Lab

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
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.1096-288G>A rs933150 0.30258
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.1095+6G>A rs1800525 0.10544
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520

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