ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Dobyns Lab, Seattle Children's Research Institute and "likely pathogenic" from any submitter

Minimum review status of the submission from Dobyns Lab, Seattle Children's Research Institute: Collection method of the submission from Dobyns Lab, Seattle Children's Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg) rs1488808726
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe) rs1557668270
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr) rs1557670503
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly) rs1557670515
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe) rs1557670520
NM_012090.5(MACF1):c.10617+444_15577-288del

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