ClinVar Miner

Variants in gene ABCC2 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000392.5(ABCC2):c.1031+4A>G rs373384181 0.00004
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000392.5(ABCC2):c.1968-1G>C rs756707816
NM_000392.5(ABCC2):c.2153del (p.Asn718fs)
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer)
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)

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