ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "association"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (association) minimum review status: Submission 2 (association) method:

Total variants with conflicting interpretations: 19

HGVS dbSNP gnomAD frequency
NM_000777.5(CYP3A5):c.219-237A>G rs776746 0.72671
NC_000015.10:g.58431740G>A rs2070895 0.33491
NM_003357.5(SCGB1A1):c.-26G>A rs3741240 0.31443
NM_002036.3(ACKR1):c.-67T>C rs2814778 0.25719
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.07017
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04620
UGT1A1*6 rs4148323 0.01140
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00374
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677 0.00066
NM_000511.6(FUT2):c.604C>T (p.Arg202Ter) rs1800028 0.00057
NM_001130144.3(LTBP3):c.132del (p.Pro45fs) rs1286042594
Single allele
UGT1A1*28 rs3064744

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