ClinVar Miner

List of variants reported as benign for Moyamoya syndrome

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059
NM_001111.5(ADAR):c.2079+8G>A rs376867928
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055
NM_002834.3:c.1-140delG
NM_002834.4(PTPN11):c.137+35G>A rs727505387
NM_002834.4(PTPN11):c.14+25G>C rs7972574
NM_002834.4(PTPN11):c.14+54C>A rs7973432
NM_002834.4(PTPN11):c.15-38C>T rs727505378
NM_002834.4(PTPN11):c.1599+26G>A rs727505390
NM_002834.4(PTPN11):c.1599+33A>G rs727505380
NM_002834.4(PTPN11):c.1600-95C>T rs3741983
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.525+12G>C rs41304351
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.757-69T>C rs150087259
NM_002834.4(PTPN11):c.854-21C>T rs41279090
NM_002834.4(PTPN11):c.854-30T>C rs144391508
NM_002834.4(PTPN11):c.854-32A>C rs187389813
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_005343.4(HRAS):c.-10C>T rs41294870
NM_005343.4(HRAS):c.222C>T (p.Thr74=) rs372223975
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1203-20T>C rs112906251
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2791+53C>T rs7577088
NM_005633.3(SOS1):c.2964+32T>G rs727505384
NM_005633.3(SOS1):c.3081+26G>A rs186106971
NM_005633.3(SOS1):c.3081+32A>G rs6723430
NM_005633.3(SOS1):c.3347-20T>G rs727505382
NM_005633.3(SOS1):c.720+25C>G rs997344
NM_005633.3:c.213+15C>G
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546
NM_006031.6(PCNT):c.2610-5C>T rs2839226
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.720+17T>C rs9982233
NM_006031.6(PCNT):c.721-7G>A rs2839217
NM_006031.6(PCNT):c.7914-16C>T rs2839257
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400
NM_006397.2(RNASEH2A):c.412-6T>G rs192358167
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.2162-4C>A rs57179949
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354
NM_006939.4(SOS2):c.3075+7C>T rs144391749
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3540_3542TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088
NM_006939.4(SOS2):c.858+9A>G rs201701595
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2454+6T>C rs6748554
NM_022168.4(IFIH1):c.2455-7T>A rs41399348
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355
NM_022168.4(IFIH1):c.2807+1G>A rs35732034
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089
NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_024570.3(RNASEH2B):c.189A>G (p.Val63=) rs35595258
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_032193.3(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
NM_033629.6(TREX1):c.*37T>C rs3135946
NM_033629.6(TREX1):c.-68T>C rs3135941
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_080628.3(TLDC2):c.*172G>A rs35102927
NM_080628.3(TLDC2):c.18-559G>A rs8124728
NM_182710.3(KAT5):c.1264+765G>A rs3372
NM_182710.3(KAT5):c.1265-334T>G rs521678
NM_182710.3(KAT5):c.1265-724A>G rs535111

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