List of variants in gene combination AIRE, LOC130066813 reported as uncertain significance 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly)	rs201602355	0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)	rs746873146	0.00003
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)	rs866387711	0.00003
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)	rs1444691231	0.00001
NM_000383.4(AIRE):c.1520A>T (p.His507Leu)	rs373920616	0.00001
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)	rs754625743	0.00001
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)	rs777798500	0.00001
NM_000383.4(AIRE):c.1566+4A>G	rs558313647	0.00001
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)	rs2517888673
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser)	rs999281375
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)	rs754625743
NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)	rs747951616
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)	rs2040608637
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg)	rs746873146

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