ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Mendelics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001354689.3(RAF1):c.773C>G (p.Thr258Arg)
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002880.3(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe)
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe)
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.779G>A (p.Arg260His)
NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del)
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_033360.4(KRAS):c.483= (p.Arg161=) rs4362222
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752

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