ClinVar Miner

Variants with conflicting interpretations "established risk allele" and "uncertain significance"

Submission 1 (established risk allele) minimum review status: Submission 1 (established risk allele) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 6

HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032

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