List of variants reported as pathogenic for Polyglandular autoimmune syndrome, type 1 by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)	rs179363880	0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter)	rs755490967	0.00002
NM_000383.4(AIRE):c.1A>T (p.Met1Leu)	rs121434258	0.00001
NM_000383.4(AIRE):c.463+2T>C	rs786204478	0.00001
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	rs786204567
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)	rs179363882
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)	rs121434256
NM_000383.4(AIRE):c.47C>T (p.Thr16Met)	rs179363877
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)	rs1057517241
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675

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