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:
ClinVar version:

Total variants with conflicting interpretations: 19

HGVS dbSNP
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_001138.1(AGRP):c.199G>A (p.Ala67Thr) rs5030980
NM_002036.3(ACKR1):c.-67T>C rs2814778
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_005052.3(RAC3):c.182A>T (p.Gln61Leu) rs1568018920
NM_005052.3(RAC3):c.86C>T (p.Pro29Leu) rs1568018697
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) rs74830677
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286
NM_174936.3(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593
NM_194248.3(OTOF):c.2975_2976AG[1] (p.Gln994fs) rs397515597
Single allele
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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