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 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: 22
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HGVS dbSNP
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005957.5(MTHFR):c.548G>A rs574132670
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851

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