ClinVar Miner

Variants with conflicting interpretations "pathogenic" from ClinGen RASopathy Variant Curation Expert Panel and "likely 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: 7
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HGVS dbSNP
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048

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