ClinVar Miner

Variants with conflicting interpretations "established risk allele" and "pathogenic"

Submission 1 (established risk allele) minimum review status: Submission 1 (established risk allele) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 11

HGVS dbSNP gnomAD frequency
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
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_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847

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