ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Division of Human Genetics, Children's Hospital of Philadelphia and "likely benign" from any submitter

Minimum review status of the submission from Division of Human Genetics, Children's Hospital of Philadelphia: Collection method of the submission from Division of Human Genetics, Children's Hospital of Philadelphia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00029
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00011
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003

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