ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by GenomeConnect - Invitae Patient Insights Network

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln)	rs753878067	0.00002
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675

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