ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Division of Medical Genetics, University of Washington and "likely pathogenic" from any submitter

Minimum review status of the submission from Division of Medical Genetics, University of Washington: Collection method of the submission from Division of Medical Genetics, University of Washington:
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_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_007294.4(BRCA1):c.4986+6T>C rs80358086 0.00001
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133

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