ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "association"

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

Total variants with conflicting interpretations: 7

HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
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_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
Single allele

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