ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "benign" from any submitter

Minimum review status of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics: Collection method of the submission from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00093
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg) rs1397179937 0.00001
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001

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