List of variants in gene combination LOC130063193, MAP2K2 reported as uncertain significance for RASopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro)	rs758307267	0.00001
NM_030662.4(MAP2K2):c.17A>G (p.Lys6Arg)
NM_030662.4(MAP2K2):c.22del (p.Val8fs)	rs730880519
NM_030662.4(MAP2K2):c.34C>A (p.Leu12Ile)	rs2041335933
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr)	rs904859028
NM_030662.4(MAP2K2):c.55G>T (p.Ala19Ser)
NM_030662.4(MAP2K2):c.58G>A (p.Glu20Lys)
NM_030662.4(MAP2K2):c.61G>C (p.Gly21Arg)
NM_030662.4(MAP2K2):c.71del (p.Pro24fs)	rs730880525
NM_030662.4(MAP2K2):c.73A>G (p.Thr25Ala)
NM_030662.4(MAP2K2):c.79G>A (p.Glu27Lys)
NM_030662.4(MAP2K2):c.83G>A (p.Gly28Asp)
NM_030662.4(MAP2K2):c.83_84delinsAA (p.Gly28Glu)	rs730880520

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