ClinVar Miner

Variants with conflicting interpretations "association" and "pathogenic"

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

Total variants with conflicting interpretations: 13

HGVS dbSNP gnomAD frequency
NM_002036.3(ACKR1):c.-67T>C rs2814778 0.25719
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_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
UGT1A1*6 rs4148323 0.00891
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
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 0.00068
Single allele
UGT1A1*28 rs3064744

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