ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "uncertain risk allele"

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

Total variants with conflicting interpretations: 7

HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) rs1484689392 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000490.5(AVP):c.287G>T (p.Gly96Val) rs121964886
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
Single allele

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