ClinVar Miner

List of variants reported as likely benign for Noonan syndrome by Invitae

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006912.6(RIT1):c.237+10C>A rs367785615
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771
NM_006939.4(SOS2):c.2162-10C>T rs375702667
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984
NM_006939.4(SOS2):c.859-10A>T rs761341096

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