List of variants in gene AIRE, LOC130066813 studied for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn)	rs145370269	0.00241
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.1516A>G (p.Ser506Gly)	rs201602355	0.00002
NM_000383.4(AIRE):c.1504-4C>T	rs1314268321	0.00001
NM_000383.4(AIRE):c.1520A>T (p.His507Leu)	rs373920616	0.00001
NM_000383.4(AIRE):c.1566+2T>A	rs1057516985	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.1505A>T (p.Asp502Val)	rs1444691231
NM_000383.4(AIRE):c.1512T>C (p.Thr504=)	rs2040607807
NM_000383.4(AIRE):c.1513del (p.Ala505fs)	rs387906294
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
NM_000383.4(AIRE):c.1521C>T (p.His507=)	rs751968210
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser)	rs999281375
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)
NM_000383.4(AIRE):c.1540del (p.Asp514fs)	rs2146388096
NM_000383.4(AIRE):c.1545C>T (p.Asp515=)	rs2146388098
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter)	rs2040608439
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
NM_000383.4(AIRE):c.1554C>T (p.Ser518=)	rs1432714738
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg)	rs746873146
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.1566+2dup	rs1057516811
NM_000383.4(AIRE):c.1566+4A>G

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