ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Knight Diagnostic Laboratories, Oregon Health and Sciences University and "uncertain significance" from any submitter

Minimum review status of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University:
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ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717

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