ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu)	rs138949170	0.00009
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675

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