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 gnomAD frequency
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164

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