List of variants in gene AIRE reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
NM_000383.4(AIRE):c.901G>A (p.Val301Met)	rs150634562	0.00090
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)	rs142788946	0.00024
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr)	rs561652010	0.00014
NM_000383.4(AIRE):c.927C>G (p.Ile309Met)	rs74162062	0.00010
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00007
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)	rs143146599	0.00005
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr)	rs373383785	0.00002
NM_000383.4(AIRE):c.1095+5G>T	rs1057522692	0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg)	rs957681340	0.00001
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)	rs370070250	0.00001
NM_000383.4(AIRE):c.974C>T (p.Pro325Leu)	rs2040535833	0.00001
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)	rs179363884
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro)	rs2040502920
NM_000383.4(AIRE):c.838C>T (p.Pro280Ser)	rs2517880829
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)	rs754932526
NM_000383.4(AIRE):c.979C>T (p.Leu327Phe)	rs1029648118
NM_000383.4(AIRE):c.992C>T (p.Pro331Leu)	rs2517882218

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