List of variants in gene combination AIRE, LOC130066813 reported as likely benign for Polyglandular autoimmune syndrome, type 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1527C>T (p.Pro509=)	rs746856788	0.00006
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)	rs746873146	0.00003
NM_000383.4(AIRE):c.1504-4C>T	rs1314268321	0.00001
NM_000383.4(AIRE):c.1504-13T>A
NM_000383.4(AIRE):c.1504-14_1504-13del
NM_000383.4(AIRE):c.1504-17T>C
NM_000383.4(AIRE):c.1504-18C>T
NM_000383.4(AIRE):c.1512T>C (p.Thr504=)	rs2040607807
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
NM_000383.4(AIRE):c.1521C>T (p.His507=)	rs751968210
NM_000383.4(AIRE):c.1545C>T (p.Asp515=)	rs2146388098
NM_000383.4(AIRE):c.1546C>T (p.Leu516=)
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
NM_000383.4(AIRE):c.1554C>T (p.Ser518=)	rs1432714738
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)

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