ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Myriad Genetics, Inc. and "pathogenic" from any submitter

Minimum review status of the submission from Myriad Genetics, Inc.: Collection method of the submission from Myriad Genetics, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892

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