ClinVar Miner

Variants with conflicting interpretations "pathogenic, low penetrance" and "likely pathogenic"

Submission 1 (pathogenic, low penetrance) minimum review status: Submission 1 (pathogenic, low penetrance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 9

HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001

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