ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Reproductive Health Research and Development, BGI Genomics and "likely benign" from any submitter

Minimum review status of the submission from Reproductive Health Research and Development, BGI Genomics: Collection method of the submission from Reproductive Health Research and Development, BGI Genomics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028

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