ClinVar Miner

Variants in gene IL12RB1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802 0.00123
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=) rs371461366 0.00042
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=) rs373545812 0.00037
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=) rs144647048 0.00032
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=) rs201723337 0.00029
NM_005535.3(IL12RB1):c.1791+9G>A rs182660189 0.00026
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg) rs200811721 0.00021
NM_005535.3(IL12RB1):c.735G>A (p.Val245=) rs17878522 0.00017
NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=) rs368969256 0.00014
NM_005535.3(IL12RB1):c.1190-13C>T rs371881148 0.00011
NM_005535.3(IL12RB1):c.1269C>T (p.His423=) rs367647802 0.00011
NM_005535.3(IL12RB1):c.309T>C (p.Ala103=) rs369830496 0.00009
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala) rs150285174 0.00009
NM_005535.3(IL12RB1):c.701-6T>C rs374699716 0.00007
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=) rs145095951 0.00004
NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=) rs772239442 0.00002
NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=) rs759839534 0.00002
NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=) rs886054300 0.00002
NM_005535.3(IL12RB1):c.561A>T (p.Gly187=) rs200542111 0.00002
NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=) rs761731702 0.00001
NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=) rs542734526
NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=) rs2034193297
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=) rs145487261

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