ClinVar Miner

Variants with conflicting interpretations "pathogenic" from OMIM and "risk factor" from any submitter

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NC_000017.11:g.34252769A>G rs1024611 0.27904
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) rs1800566 0.20869
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07013
HLA-B*57:01 rs2395029 0.02358
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe) rs76863441 0.00131
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_005084.4(PLA2G7):c.663+1G>A rs201899866 0.00001
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382

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