ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser)	rs750934083	0.00002
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe)	rs371140798	0.00001

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