ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "uncertain significance" from Counsyl

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: 6
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001

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