ClinVar Miner

List of variants in gene MAP2K1, SNAPC5 studied for RASopathy

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Total variants: 49
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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.1069-16G>A rs146942812 0.00073
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.1168G>A (p.Ala390Thr) rs730880500 0.00009
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.1062A>C (p.Gln354His) rs750035241 0.00002
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.1135A>G (p.Ile379Val) rs373794940 0.00002
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser) rs750934083 0.00002
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile) rs200442489 0.00002
NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val) rs1009731985 0.00001
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.1115C>T (p.Ala372Val) rs1893220987 0.00001
NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798 0.00001
NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val) rs896594939 0.00001
NC_000015.9:g.(?_66679676)_(66782963_?)dup
NC_000015.9:g.(?_66774083)_(66782963_?)dup
NC_000015.9:g.(?_66780810)_(66782933_?)del
NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu)
NM_002755.4(MAP2K1):c.1054T>G (p.Leu352Val)
NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.1068+13_1068+15del rs2140684503
NM_002755.4(MAP2K1):c.1069-11C>A
NM_002755.4(MAP2K1):c.1069-3C>T
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.1113T>G (p.Phe371Leu)
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.1153A>G (p.Ser385Gly)
NM_002755.4(MAP2K1):c.1157C>T (p.Thr386Ile)
NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=) rs781328871
NM_002755.4(MAP2K1):c.1180dup (p.Ter394LeuextTer?) rs1893223775
NM_002755.4(MAP2K1):c.1181_*2del (p.Ter394CysextTer?) rs1595889609

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