ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "pathogenic, low penetrance"

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

Total variants with conflicting interpretations: 6

HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 0.00002

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