ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "likely pathogenic" 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: 23
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) rs781261962 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260

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