ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences and "uncertain significance" from any submitter

Minimum review status of the submission from Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences: Collection method of the submission from Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000147.5(FUCA1):c.82del (p.Val28fs) rs1639666186
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter) rs1434250650
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter) rs1436214826
NM_024884.3(L2HGDH):c.408+1G>C rs2030438427

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