ClinVar Miner

List of variants in gene AIRE reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_000383.3(AIRE):c.-24_1del25 rs1555871766
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.3(AIRE):c.1054_1068del15 (p.Ala352_Arg356del) rs1481102287
NM_000383.3(AIRE):c.1054_1068dup (p.Arg356_Pro357insAlaGluGluProArg) rs1481102287
NM_000383.3(AIRE):c.1063C>A (p.Pro355Thr)
NM_000383.3(AIRE):c.1065_1079del15 (p.Arg356_Pro360del) rs1555872876
NM_000383.3(AIRE):c.1078_1089del12 (p.Pro360_Glu363del) rs1555872881
NM_000383.3(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.3(AIRE):c.1095+3_1095+44del rs1037154559
NM_000383.3(AIRE):c.1168A>G (p.Thr390Ala)
NM_000383.3(AIRE):c.1279-18C>T rs72650678
NM_000383.3(AIRE):c.1303G>A (p.Gly435Arg) rs373993732
NM_000383.3(AIRE):c.1327G>A (p.Val443Met)
NM_000383.3(AIRE):c.1334G>A (p.Arg445Gln)
NM_000383.3(AIRE):c.1336T>G (p.Cys446Gly) rs1555873106
NM_000383.3(AIRE):c.137C>T (p.Thr46Met) rs758870962
NM_000383.3(AIRE):c.1403C>T (p.Thr468Met)
NM_000383.3(AIRE):c.1450G>A (p.Val484Met) rs367966318
NM_000383.3(AIRE):c.1454A>T (p.Glu485Val)
NM_000383.3(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959
NM_000383.3(AIRE):c.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.3(AIRE):c.1612delC (p.Arg538Valfs) rs1555873662
NM_000383.3(AIRE):c.173C>A (p.Ala58Asp) rs747941115
NM_000383.3(AIRE):c.226G>A (p.Asp76Asn) rs146810389
NM_000383.3(AIRE):c.22C>T (p.Arg8Cys) rs1231469574
NM_000383.3(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.3(AIRE):c.478G>A (p.Ala160Thr)
NM_000383.3(AIRE):c.485C>T (p.Pro162Leu)
NM_000383.3(AIRE):c.538+42delA rs3214074
NM_000383.3(AIRE):c.538G>A (p.Gly180Arg)
NM_000383.3(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
NM_000383.3(AIRE):c.581T>C (p.Met194Thr)
NM_000383.3(AIRE):c.590G>C (p.Gly197Ala)
NM_000383.3(AIRE):c.599C>T (p.Pro200Leu)
NM_000383.3(AIRE):c.600G>A (p.Pro200=) rs754331960
NM_000383.3(AIRE):c.652+14C>T rs41277546
NM_000383.3(AIRE):c.794C>T (p.Ala265Val)
NM_000383.3(AIRE):c.798+5G>A
NM_000383.3(AIRE):c.816G>T (p.Arg272Ser)
NM_000383.3(AIRE):c.892G>A (p.Glu298Lys) rs763636007
NM_000383.3(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser)

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