ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre and "benign" from any submitter

Minimum review status of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre: Collection method of the submission from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_025000.4(DCAF17):c.322-14del rs201494527
Single allele rs1555502637

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