ClinVar Miner

Variants with conflicting interpretations "association" and "benign"

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

Total variants with conflicting interpretations: 22

HGVS dbSNP
NM_000078.2(CETP):c.1264G>A (p.Val422Ile) rs5882
NM_000237.3(LPL):c.*1671T>C rs13702
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000419.4(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911
NM_000511.5(FUT2):c.461G>A (p.Trp154Ter) rs601338
NM_001063.3(TF):c.1765C>T (p.Pro589Ser) rs1049296
NM_001178065.1(CASR):c.2986G>T (p.Ala996Ser) rs1801725
NM_002386.3(MC1R):c.178G>T (p.Val60Leu) rs1805005
NM_002386.3(MC1R):c.274G>A (p.Val92Met) rs2228479
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_005032.6(PLS3):c.321T>A (p.Gly107=) rs140121121
NM_007272.2(CTRC):c.180C>A (p.Gly60=) rs497078
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_022336.3(EDAR):c.1109T>C (p.Val370Ala) rs3827760
NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286
NM_198253.2(TERT):c.1951-205G>A rs10069690
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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