List of variants in gene combination MAP2K1, SNAPC5 reported as likely benign 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=)	rs150841154	0.00103
NM_002755.4(MAP2K1):c.1068+19G>A	rs188235318	0.00029
NM_002755.4(MAP2K1):c.1068+9A>G	rs368800650	0.00024
NM_002755.4(MAP2K1):c.1068+18G>A	rs369137482	0.00007
NM_002755.4(MAP2K1):c.1123C>A (p.Leu375Ile)	rs752538915	0.00004
NM_002755.4(MAP2K1):c.1068+17C>T	rs566984700	0.00002
NM_002755.4(MAP2K1):c.1069-12C>A	rs781412352	0.00002
NM_002755.4(MAP2K1):c.1069-17C>T	rs201274410	0.00001
NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=)	rs200293968	0.00001
NM_002755.4(MAP2K1):c.1068+13_1068+15del	rs2140684503
NM_002755.4(MAP2K1):c.1069-11C>A
NM_002755.4(MAP2K1):c.1069-6A>G
NM_002755.4(MAP2K1):c.1069-7del
NM_002755.4(MAP2K1):c.1069-8A>T
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr)	rs1595889532
NM_002755.4(MAP2K1):c.1086G>A (p.Lys362=)
NM_002755.4(MAP2K1):c.1101G>A (p.Glu367=)
NM_002755.4(MAP2K1):c.1107G>A (p.Val369=)
NM_002755.4(MAP2K1):c.1110T>C (p.Asp370=)
NM_002755.4(MAP2K1):c.1116A>T (p.Ala372=)
NM_002755.4(MAP2K1):c.1125C>G (p.Leu375=)
NM_002755.4(MAP2K1):c.1140C>A (p.Gly380=)
NM_002755.4(MAP2K1):c.1140C>T (p.Gly380=)	rs1278357327
NM_002755.4(MAP2K1):c.1143T>A (p.Leu381=)
NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=)	rs2140687038
NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=)	rs781328871

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