ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre and "likely 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: 15
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463 0.00014
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) rs769211787 0.00003
NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys) rs369082457 0.00002
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476 0.00001
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
Single allele rs1555502637

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