ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin: Collection method of the submission from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092

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