ClinVar Miner

Variants with conflicting interpretations "benign" and "association"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (association) minimum review status: Submission 2 (association) method:
ClinVar version:

Total variants with conflicting interpretations: 40

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_000511.6(FUT2):c.461G>A (p.Trp154Ter) rs601338 0.45281
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_001366385.1(CARD14):c.2399-4A>G rs11653893 0.40359
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_000237.3(LPL):c.*1671T>C rs13702 0.35875
NM_198253.3(TERT):c.1951-205G>A rs10069690 0.35840
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_000684.3(ADRB1):c.145A>G (p.Ser49Gly) rs1801252 0.17028
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
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_004827.3(ABCG2):c.421C>A (p.Gln141Lys) rs2231142 0.09384
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
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_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
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_001289125.3(IFNAR2):c.28T>G (p.Phe10Val) rs1051393
NM_001289125.3(IFNAR2):c.98-43T>C
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
UGT1A1*28 rs3064744

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