ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Biesecker Lab/Clinical Genomics Section, National Institutes of Health and "pathogenic" from any submitter

Minimum review status of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health: Collection method of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194

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