ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Mendelics

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Total variants: 4

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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.1095+78del	rs5844181
NM_000383.4(AIRE):c.117del (p.Glu40fs)	rs1248788128
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	rs121434256

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