ClinVar Miner

Variants in gene ABCC2 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr) rs17222632 0.00388
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr) rs57351269 0.00129
NM_000392.5(ABCC2):c.258A>G (p.Val86=) rs142443276 0.00091
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00078
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401 0.00002
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429

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