ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India and "pathogenic" from any submitter

Minimum review status of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India: Collection method of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_004569.5(PIGH):c.487C>T (p.Arg163Trp) rs370763975 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu) rs1307746359 0.00001
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) rs1559532562
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) rs1575520937
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)
NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys)
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro) rs1943259006
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422

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