ClinVar Miner

Variants with conflicting interpretations "likely benign" from Reproductive Health Research and Development, BGI Genomics and "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: 5
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319

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