ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ClinGen RASopathy Variant Curation Expert Panel and "pathogenic" from any submitter

Minimum review status of the submission from ClinGen RASopathy Variant Curation Expert Panel: Collection method of the submission from ClinGen RASopathy Variant Curation Expert Panel:
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_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002834.5(PTPN11):c.782T>A (p.Leu261His) rs765642157
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026

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