ClinVar Miner

List of variants in gene combination MAP2K1, SNAPC5 reported as likely benign for RASopathy

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002755.4(MAP2K1):c.1068+19G>A rs188235318 0.00027
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.1098T>C (p.Ala366=) rs200293968 0.00003
NM_002755.4(MAP2K1):c.1107G>A (p.Val369=) rs537811569 0.00003
NM_002755.4(MAP2K1):c.1068+17C>T rs566984700 0.00002
NM_002755.4(MAP2K1):c.1069-12C>A rs781412352 0.00001
NM_002755.4(MAP2K1):c.1069-17C>T rs201274410 0.00001
NM_002755.4(MAP2K1):c.1068+13_1068+15del rs2140684503
NM_002755.4(MAP2K1):c.1068+18G>C
NM_002755.4(MAP2K1):c.1068+18G>T
NM_002755.4(MAP2K1):c.1068+19G>T
NM_002755.4(MAP2K1):c.1069-10T>C
NM_002755.4(MAP2K1):c.1069-11C>A rs1893219082
NM_002755.4(MAP2K1):c.1069-6A>G rs748223054
NM_002755.4(MAP2K1):c.1069-7C>T
NM_002755.4(MAP2K1):c.1069-7del rs2545110138
NM_002755.4(MAP2K1):c.1069-8A>T rs2545110127
NM_002755.4(MAP2K1):c.1086G>A (p.Lys362=) rs1414843735
NM_002755.4(MAP2K1):c.1101G>A (p.Glu367=) rs770847542
NM_002755.4(MAP2K1):c.1110T>C (p.Asp370=) rs2545110252
NM_002755.4(MAP2K1):c.1116A>T (p.Ala372=) rs1469820569
NM_002755.4(MAP2K1):c.1125C>G (p.Leu375=) rs2545110285
NM_002755.4(MAP2K1):c.1140C>A (p.Gly380=) rs1278357327
NM_002755.4(MAP2K1):c.1140C>T (p.Gly380=) rs1278357327
NM_002755.4(MAP2K1):c.1143T>A (p.Leu381=) rs758866695
NM_002755.4(MAP2K1):c.1146C>T (p.Asn382=) rs2140687038
NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=) rs781328871

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