ClinVar Miner

List of variants in gene RAF1 reported as uncertain significance for Noonan syndrome

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.*190G>A rs528863135 0.00335
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_002880.4(RAF1):c.-201C>A rs532668125 0.00073
NM_002880.4(RAF1):c.-209G>A rs727504351 0.00035
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002880.4(RAF1):c.-181T>C rs886057920 0.00022
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.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.*113T>G rs886057914 0.00015
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.*627C>T rs879160471 0.00009
NM_002880.4(RAF1):c.*630A>G rs975583754 0.00009
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_002880.4(RAF1):c.-264C>G rs894363344 0.00008
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_002880.4(RAF1):c.-53G>A rs985291322 0.00005
NM_002880.3(RAF1):c.-354C>G rs964288487 0.00004
NM_002880.4(RAF1):c.*643C>G rs932173134 0.00004
NM_002880.4(RAF1):c.-110G>A rs886057917 0.00003
NM_002880.4(RAF1):c.600T>C (p.Thr200=) rs779808613 0.00003
NM_002880.4(RAF1):c.*647G>T rs1457071879 0.00002
NM_002880.4(RAF1):c.*706C>T rs1466261579 0.00002
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu) rs771675427 0.00002
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu) rs886041231 0.00002
NM_002880.4(RAF1):c.934G>A (p.Val312Met) rs555034652 0.00002
NM_002880.4(RAF1):c.*410A>G rs1055682241 0.00001
NM_002880.4(RAF1):c.*73T>A rs932588742 0.00001
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.1901T>C (p.Ile634Thr) rs1013186582 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.4(RAF1):c.462C>G (p.Ile154Met) rs367732360 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002880.4(RAF1):c.654A>G (p.Arg218=) rs898490426 0.00001
NM_002880.4(RAF1):c.933C>T (p.Pro311=) rs1553613022 0.00001
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.*120C>A rs1575528605
NM_002880.4(RAF1):c.*162T>C rs886057913
NM_002880.4(RAF1):c.*628G>T rs374944110
NM_002880.4(RAF1):c.*640T>C rs759464247
NM_002880.4(RAF1):c.*729AACA[4] rs371820097
NM_002880.4(RAF1):c.*729AACA[6] rs371820097
NM_002880.4(RAF1):c.-107C>T rs1451879607
NM_002880.4(RAF1):c.-139T>G rs886057918
NM_002880.4(RAF1):c.-146C>G rs886057919
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-59C>G rs201603517
NM_002880.4(RAF1):c.1079T>C (p.Phe360Ser)
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1201C>T (p.Arg401Trp)
NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr) rs747632183
NM_002880.4(RAF1):c.1353G>C (p.Gln451His)
NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)
NM_002880.4(RAF1):c.1432G>A (p.Glu478Lys)
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp) rs865862568
NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)
NM_002880.4(RAF1):c.1467G>C (p.Leu489Phe) rs1553610155
NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe) rs1553610155
NM_002880.4(RAF1):c.1488G>T (p.Trp496Cys)
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_002880.4(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) rs773583951
NM_002880.4(RAF1):c.1850A>C (p.Asn617Thr)
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser) rs373596121
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.1A>G (p.Met1Val) rs2125453796
NM_002880.4(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.231C>T (p.Ser77=) rs1450510914
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) rs794727717
NM_002880.4(RAF1):c.445C>T (p.Leu149Phe) rs1559433480
NM_002880.4(RAF1):c.478C>T (p.Leu160Phe)
NM_002880.4(RAF1):c.545C>T (p.Thr182Ile)
NM_002880.4(RAF1):c.659_660del (p.Ser220fs) rs1575577384
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.767G>C (p.Arg256Thr)
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.843T>A (p.Ile281=) rs2058826353
NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)

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