ClinVar Miner

List of variants reported as likely benign for Noonan syndrome by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly) rs150054973 0.00004
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile) rs777373438 0.00003
NM_002880.4(RAF1):c.293T>C (p.Val98Ala) rs763559779 0.00002
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471 0.00002
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) rs1298033161 0.00001
NM_004333.6(BRAF):c.101C>T (p.Ala34Val) rs1424449802 0.00001
NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)
NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) rs1595889532
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) rs1595884713
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) rs1595886354
NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.4(RAF1):c.220A>G (p.Asn74Asp)
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)
NM_005633.4(SOS1):c.836T>C (p.Val279Ala)
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)
NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)
NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)
NM_007373.4(SHOC2):c.79G>C (p.Glu27Gln)
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) rs1599307416
NM_030662.4(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.640G>A (p.Gly214Arg)
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_033360.4(KRAS):c.500G>C (p.Arg167Thr)
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)

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