ClinVar Miner

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

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 28
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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_000511.6(FUT2):c.461G>A (p.Trp154Ter) rs601338 0.45281
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_000237.3(LPL):c.*1671T>C rs13702 0.35875
NM_000236.2(LIPC):c.-293G>A rs2070895 0.33491
NM_016180.5(SLC45A2):c.1122= (p.Leu374=) rs16891982 0.32383
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) rs2228145 0.31732
NM_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
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_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_002386.4(MC1R):c.274G>A (p.Val92Met) rs2228479 0.06520
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722 0.05621
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
UGT1A1*6 rs4148323 0.00891
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_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
UGT1A1*28 rs3064744

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