ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Genetic Medicine Research, Children's National Medical Center and "benign" from any submitter

Minimum review status of the submission from Center for Genetic Medicine Research, Children's National Medical Center: Collection method of the submission from Center for Genetic Medicine Research, Children's National Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243

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