ClinVar Miner

Variants in gene EFEMP2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_016938.5(EFEMP2):c.368-18G>A rs80047413 0.00337
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) rs144780990 0.00092
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085

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