List of variants in gene AIRE reported as uncertain significance for not provided

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1567-5C>T	rs192215705	0.00158
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=)	rs138066507	0.00099
NM_000383.4(AIRE):c.901G>A (p.Val301Met)	rs150634562	0.00092
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)	rs142788946	0.00022
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)	rs148012328	0.00022
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp)	rs376901046	0.00016
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr)	rs561652010	0.00014
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu)	rs193922417	0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met)	rs74162062	0.00010
NM_000383.4(AIRE):c.564C>G (p.Val188=)	rs201650973	0.00007
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu)	rs552129156	0.00006
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)	rs151049459	0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser)	rs139620961	0.00004
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.22C>T (p.Arg8Cys)	rs1231469574	0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr)	rs778148534	0.00001
NM_000383.4(AIRE):c.1144G>A (p.Gly382Arg)	rs2146383336
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro)	rs2040502920
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.838C>T (p.Pro280Ser)
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)	rs754932526
NM_000383.4(AIRE):c.925A>G (p.Ile309Val)	rs936714310
NM_000383.4(AIRE):c.962C>A (p.Ala321Asp)
NM_000383.4(AIRE):c.974C>T (p.Pro325Leu)
NM_000383.4(AIRE):c.979C>T (p.Leu327Phe)
NM_000383.4(AIRE):c.992C>T (p.Pro331Leu)

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