ClinVar Miner

Variants with conflicting interpretations "benign" from Invitae and "association" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro) rs1260326 0.67353
NM_000078.3(CETP):c.1264G>A (p.Val422Ile) rs5882 0.58912
NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp) rs2296545 0.45746
NM_016180.5(SLC45A2):c.1122= (p.Leu374=) rs16891982 0.32383
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) rs2228145 0.31732
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296 0.13332
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722 0.05621
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677 0.00068
NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val) rs1051393
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)

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