List of variants in gene combination AIRE, LOC130066813 reported as uncertain significance for parathyroid gland disorder

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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.1563C>T (p.Ser521=)	rs746873146	0.00003
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly)	rs201602355	0.00002
NM_000383.4(AIRE):c.1520A>T (p.His507Leu)	rs373920616	0.00001
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val)	rs1444691231
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
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.1553C>T (p.Ser518Phe)
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
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+4A>G

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