ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital: Collection method of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) rs761275346 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_001042492.3(NF1):c.6705-1G>A rs1060500356
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) rs761761205

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