ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Revvity Omics, Revvity

Included ClinVar conditions (67):
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ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00015
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00007
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00004
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe) rs760132893 0.00003
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00002
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile) rs201837340 0.00002
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln) rs777520196 0.00001
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser) rs372170139 0.00001
NM_007373.4(SHOC2):c.233C>T (p.Ala78Val) rs201197595 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) rs1851178613
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1024C>A (p.Leu342Met) rs1033098930
NM_006939.4(SOS2):c.1141C>G (p.Leu381Val) rs765776650
NM_006939.4(SOS2):c.1160G>A (p.Arg387Gln) rs2503002190
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr) rs2502991376
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val) rs886268693
NM_006939.4(SOS2):c.2281T>C (p.Trp761Arg) rs745497052
NM_006939.4(SOS2):c.3540TCC[2] (p.Pro1183del) rs765097073
NM_006939.4(SOS2):c.87+1G>T rs1481044174
NM_007373.4(SHOC2):c.1138G>A (p.Val380Ile) rs1326929249
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala) rs2542742966

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