ClinVar Miner

List of variants reported as likely pathogenic for Moyamoya angiopathy by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) rs745512025 0.00010
NM_001100818.2(PID1):c.586G>A (p.Asp196Asn) rs375488219 0.00005
NM_022152.6(TMBIM1):c.827G>A (p.Arg276Gln) rs1404218898 0.00002
NM_144777.3(SCEL):c.175G>A (p.Gly59Ser) rs34794176 0.00002
NM_001330691.3(CEP78):c.22C>T (p.Arg8Cys) rs1314816485 0.00001
NM_001374736.1(DST):c.19466C>T (p.Ala6489Val) rs766294952 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_015395.3(TECPR1):c.2899C>T (p.Arg967Cys) rs376512300 0.00001
NM_199351.3(ILDR2):c.1049G>A (p.Arg350His) rs754861502 0.00001
NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys) rs769843541
NM_001005361.3(DNM2):c.2204T>C (p.Ile735Thr) rs2073249488
NM_001011718.2(XKR7):c.1475G>A (p.Arg492His) rs748725549
NM_001130053.5(EEF1D):c.1099A>G (p.Met367Val) rs1826751784
NM_001163278.2(TENM1):c.4874T>G (p.Leu1625Arg) rs2060637524
NM_001164664.2(MAST4):c.3475C>T (p.Arg1159Trp) rs77194622
NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn) rs1555675538
NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del) rs797045187
NM_001256071.3(RNF213):c.12360C>G (p.Phe4120Leu) rs2079443609
NM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu) rs2040109939
NM_001376007.1(SLFN11):c.2603T>C (p.Ile868Thr) rs1203408796
NM_002236.5(KCNF1):c.845T>C (p.Leu282Pro) rs1661571229
NM_002419.4(MAP3K11):c.847G>A (p.Ala283Thr) rs746476599
NM_003105.6(SORL1):c.2878C>G (p.Leu960Val) rs770704659
NM_003591.4(CUL2):c.2192T>C (p.Ile731Thr) rs2084869461
NM_004727.3(SLC24A1):c.635A>G (p.His212Arg) rs2074441517
NM_005026.5(PIK3CD):c.2341G>A (p.Gly781Arg) rs1648809005
NM_005157.6(ABL1):c.292G>T (p.Glu98Ter) rs1830947762
NM_005898.5(CAPRIN1):c.811C>T (p.Gln271Ter) rs1276785065
NM_006885.4(ZFHX3):c.3432C>A (p.Cys1144Ter) rs2038723552
NM_014850.4(SRGAP3):c.2281C>T (p.Arg761Cys) rs1033693138
NM_017649.5(CNNM2):c.1051G>C (p.Gly351Arg) rs1845547583
NM_024758.5(AGMAT):c.481G>A (p.Asp161Asn) rs1639091509
NM_032223.4(PCNX3):c.229_230del (p.Val77fs) rs1854764280
NM_133460.3(ZNF418):c.1757C>T (p.Thr586Ile) rs2072226563
NM_182947.4(ARHGEF25):c.1327C>T (p.Arg443Cys) rs778066908

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