ClinVar Miner

List of variants in gene combination LOC130063193, MAP2K2 reported as likely benign for RASopathy

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=) rs368233443 0.00013
NM_030662.4(MAP2K2):c.39C>T (p.Thr13=) rs752951050 0.00002
NM_030662.4(MAP2K2):c.92+11A>C rs1228838756 0.00001
NM_030662.4(MAP2K2):c.21G>A (p.Pro7=)
NM_030662.4(MAP2K2):c.30G>A (p.Pro10=) rs2145089952
NM_030662.4(MAP2K2):c.30G>C (p.Pro10=)
NM_030662.4(MAP2K2):c.45C>T (p.Asn15=) rs767770776
NM_030662.4(MAP2K2):c.4C>T (p.Leu2=)
NM_030662.4(MAP2K2):c.66A>G (p.Pro22=) rs1297461977
NM_030662.4(MAP2K2):c.92+12G>T rs2145089682
NM_030662.4(MAP2K2):c.92+15G>A
NM_030662.4(MAP2K2):c.92+18A>T

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