ClinVar Miner

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

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.165G>T (p.Pro55=) rs570176840
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106
NM_001111.5(ADAR):c.1890C>T (p.Cys630=) rs558496566
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561
NM_005343.4(HRAS):c.102C>T (p.Pro34=) rs149199691
NM_005343.4(HRAS):c.112-10C>T rs727503092
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) rs763920334
NM_005343.4(HRAS):c.141T>C (p.Asp47=) rs765092617
NM_005343.4(HRAS):c.153C>T (p.Cys51=) rs759482455
NM_005343.4(HRAS):c.156G>A (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.156G>T (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.16C>T (p.Leu6=) rs763376142
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456
NM_005343.4(HRAS):c.219C>T (p.Arg73=) rs749870259
NM_005343.4(HRAS):c.249C>T (p.Ala83=) rs111372582
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.290+9C>T rs747854581
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207
NM_005343.4(HRAS):c.312G>A (p.Lys104=) rs1060504682
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280
NM_005343.4(HRAS):c.339G>A (p.Leu113=) rs878854759
NM_005343.4(HRAS):c.358C>T (p.Leu120=) rs397517139
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) rs1471385417
NM_005343.4(HRAS):c.42G>A (p.Val14=) rs777038147
NM_005343.4(HRAS):c.435G>A (p.Ser145=) rs747008553
NM_005343.4(HRAS):c.441G>A (p.Lys147=) rs777386438
NM_005343.4(HRAS):c.451-5C>G rs370181298
NM_005343.4(HRAS):c.451-5C>T rs370181298
NM_005343.4(HRAS):c.474G>A (p.Thr158=) rs747269683
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143
NM_005343.4(HRAS):c.516C>T (p.Asn172=) rs765180494
NM_005343.4(HRAS):c.519T>G (p.Pro173=) rs759004302
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.534C>G (p.Gly178=) rs770431635
NM_005343.4(HRAS):c.537C>T (p.Pro179=) rs371316832
NM_005343.4(HRAS):c.54G>A (p.Ala18=) rs148380285
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) rs369039481
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_006397.2(RNASEH2A):c.36C>T (p.Gly12=) rs375139492
NM_006397.2(RNASEH2A):c.417C>T (p.Phe139=) rs201413125
NM_006397.2(RNASEH2A):c.465A>G (p.Gln155=) rs758492414
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
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu) rs140977021
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu) rs144274375
NM_022168.4(IFIH1):c.2016_2019AGAT[1] (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=) rs147175706
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=) rs35677292
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=) rs372007025
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val) rs146721166
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257

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