ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "likely benign" from any submitter

Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00006
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433

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