ClinVar Miner

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

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Total variants with conflicting interpretations: 19
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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_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38983
NM_198253.3(TERT):c.1951-205G>A rs10069690 0.35840
NC_000015.10:g.58431740G>A rs2070895 0.33491
NM_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
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_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_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
UGT1A1*28 rs3064744

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