ClinVar Miner

List of variants in gene RAF1 studied for Noonan syndrome and Noonan-related syndrome

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002880.4(RAF1):c.124G>A (p.Ala42Thr) rs200856000 0.00021
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp) rs730881005 0.00003
NM_002880.4(RAF1):c.934G>A (p.Val312Met) rs555034652 0.00002
NM_002880.4(RAF1):c.-27+7G>A rs886057916 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.1150C>G (p.Pro384Ala) rs140788943 0.00001
NM_002880.4(RAF1):c.1334T>G (p.Leu445Arg) rs757591797 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.29C>T (p.Thr10Met) rs144637992 0.00001
NM_002880.4(RAF1):c.898C>A (p.Leu300Met) rs1183645997 0.00001
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser) rs576041742
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly) rs730881002
NM_002880.4(RAF1):c.1371C>G (p.Asp457Glu) rs2125332052
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_002880.4(RAF1):c.1947G>A (p.Ter649=) rs1471833190
NM_002880.4(RAF1):c.264G>A (p.Val88=) rs1189963978
NM_002880.4(RAF1):c.424-5_424-3del rs764020787
NM_002880.4(RAF1):c.492A>G (p.Arg164=) rs2059120434
NM_002880.4(RAF1):c.567C>A (p.Asn189Lys) rs2125416422
NM_002880.4(RAF1):c.602T>C (p.Ile201Thr) rs369852728
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828

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