ClinVar Miner

List of variants studied for Noonan syndrome by Revvity Omics, Revvity

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00009
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00001
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
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)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln)
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
NM_006939.4(SOS2):c.1024C>A (p.Leu342Met)
NM_006939.4(SOS2):c.1141C>G (p.Leu381Val)
NM_006939.4(SOS2):c.1160G>A (p.Arg387Gln)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.1375A>G (p.Ile459Val) rs886268693
NM_006939.4(SOS2):c.2281T>C (p.Trp761Arg)
NM_006939.4(SOS2):c.3540TCC[2] (p.Pro1183del)
NM_006939.4(SOS2):c.87+1G>T
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997

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