ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics and "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: 20
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HGVS dbSNP
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.3(GBA):c.1603C>T rs747506979
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636

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