ClinVar Miner

Variants with conflicting interpretations "benign" from Cohesion Phenomics and "likely benign" from any submitter

Minimum review status of the submission from Cohesion Phenomics: Collection method of the submission from Cohesion Phenomics:
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Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554 0.02896
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000257.4(MYH7):c.1332T>C (p.Asn444=) rs397516099 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.5451G>A (p.Ala1817=) rs138682220
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)

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