ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Clinical Genomics Program, Stanford Medicine and "pathogenic" from any submitter

Minimum review status of the submission from Clinical Genomics Program, Stanford Medicine: Collection method of the submission from Clinical Genomics Program, Stanford Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042

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