ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Daryl Scott Lab, Baylor College of Medicine and "pathogenic" from any submitter

Minimum review status of the submission from Daryl Scott Lab, Baylor College of Medicine: Collection method of the submission from Daryl Scott Lab, Baylor College of Medicine:
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_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_006296.7(VRK2):c.*102_*105dup rs759217526

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