ClinVar Miner

List of variants in gene RAF1 reported as uncertain significance for Rasopathy

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Total variants: 64
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HGVS dbSNP
NC_000003.11:g.(?_12626003)_(12660230_?)dup
NC_000003.11:g.(?_12627160)_(12627318_?)dup
NM_001354691.2(RAF1):c.-7_-6delinsAT rs876657965
NM_002880.3(RAF1):c.-26-?_1370+?dup
NM_002880.3(RAF1):c.113A>C (p.Tyr38Ser) rs576041742
NM_002880.3(RAF1):c.1144C>T (p.Pro382Ser)
NM_002880.3(RAF1):c.1150C>G (p.Pro384Ala) rs140788943
NM_002880.3(RAF1):c.118C>T (p.Arg40Cys) rs772390935
NM_002880.3(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.122G>T (p.Arg41Leu) rs145611571
NM_002880.3(RAF1):c.1247A>G (p.Asn416Ser)
NM_002880.3(RAF1):c.1272C>T (p.Cys424=) rs142942142
NM_002880.3(RAF1):c.133G>A (p.Asp45Asn)
NM_002880.3(RAF1):c.1349G>T (p.Arg450Leu) rs886041642
NM_002880.3(RAF1):c.1355C>T (p.Thr452Met) rs555781462
NM_002880.3(RAF1):c.1517C>T (p.Thr506Ile) rs1315751104
NM_002880.3(RAF1):c.1556T>G (p.Met519Arg)
NM_002880.3(RAF1):c.1655A>G (p.Asn552Ser) rs775817988
NM_002880.3(RAF1):c.1688G>A (p.Arg563Gln) rs727504827
NM_002880.3(RAF1):c.1694A>G (p.Tyr565Cys)
NM_002880.3(RAF1):c.16G>A (p.Gly6Arg)
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1741A>G (p.Met581Val) rs752063874
NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) rs730881004
NM_002880.3(RAF1):c.1901T>C (p.Ile634Thr)
NM_002880.3(RAF1):c.1904A>G (p.Asn635Ser) rs772585174
NM_002880.3(RAF1):c.1913C>T (p.Thr638Met) rs730881007
NM_002880.3(RAF1):c.1936C>T (p.Pro646Ser) rs1060503152
NM_002880.3(RAF1):c.262G>T (p.Val88Leu) rs1559438429
NM_002880.3(RAF1):c.309C>G (p.His103Gln) rs1057520880
NM_002880.3(RAF1):c.365T>C (p.Ile122Thr) rs730881000
NM_002880.3(RAF1):c.370G>A (p.Glu124Lys) rs1060503153
NM_002880.3(RAF1):c.41G>A (p.Gly14Asp) rs757333753
NM_002880.3(RAF1):c.420C>G (p.Asn140Lys) rs775525868
NM_002880.3(RAF1):c.434C>T (p.Thr145Met) rs762448032
NM_002880.3(RAF1):c.462C>G (p.Ile154Met) rs367732360
NM_002880.3(RAF1):c.482A>G (p.Asn161Ser) rs775781057
NM_002880.3(RAF1):c.537A>G (p.Lys179=)
NM_002880.3(RAF1):c.589C>G (p.Pro197Ala)
NM_002880.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_002880.3(RAF1):c.622G>C (p.Ala208Pro)
NM_002880.3(RAF1):c.647G>A (p.Arg216His) rs761703202
NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_002880.3(RAF1):c.672G>T (p.Met224Ile) rs1553614191
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.681-5_681-3del rs1553613814
NM_002880.3(RAF1):c.746G>T (p.Gly249Val) rs1559426289
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.791A>T (p.His264Leu) rs1057517887
NM_002880.3(RAF1):c.835G>A (p.Asp279Asn) rs368796800
NM_002880.3(RAF1):c.848G>A (p.Ser283Asn)
NM_002880.3(RAF1):c.853A>G (p.Ser285Gly) rs150054973
NM_002880.3(RAF1):c.892A>C (p.Asn298His) rs878854567
NM_002880.3(RAF1):c.907A>G (p.Thr303Ala) rs775898894
NM_002880.3(RAF1):c.917C>T (p.Ser306Leu) rs886041231
NM_002880.3(RAF1):c.934G>A (p.Val312Met) rs555034652
NM_002880.3(RAF1):c.935T>C (p.Val312Ala) rs370243307
NM_002880.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_002880.3(RAF1):c.952C>T (p.Arg318Trp)
NM_002880.3(RAF1):c.953G>A (p.Arg318Gln)
NM_002880.3(RAF1):c.958C>T (p.Pro320Ser)
NM_002880.3(RAF1):c.97G>A (p.Val33Ile)
NM_002880.3(RAF1):c.997C>T (p.Arg333Cys) rs551466727

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