ClinVar Miner

List of variants studied for cerebral arterial disease

Included ClinVar conditions (12):
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Minimum conflict level:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001130682.3(GUCY1A1):c.1074A>G (p.Lys358=) rs11944673 0.97422
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_001256071.3(RNF213):c.13590G>A (p.Ala4530=) rs61739536 0.01687
NM_001256071.3(RNF213):c.10727-4A>G rs116007874 0.01549
NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr) rs148731719 0.00799
NM_001256071.3(RNF213):c.14194A>G (p.Lys4732Glu) rs12944385 0.00750
NM_001256071.3(RNF213):c.10443G>A (p.Ala3481=) rs116677277 0.00739
NM_001256071.3(RNF213):c.1110A>G (p.Ala370=) rs141921176 0.00436
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys) rs147868237 0.00389
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_020893.6(CCDC180):c.2935C>T (p.Arg979Trp) rs183800704 0.00319
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val) rs201493500 0.00317
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_003176.4(SYCP1):c.260A>G (p.Tyr87Cys) rs146221635 0.00273
NM_052905.4(FMNL2):c.3231T>G (p.Phe1077Leu) rs182064759 0.00228
NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg) rs201620985 0.00187
NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr) rs545060242 0.00160
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_002486.5(NCBP1):c.373G>A (p.Val125Met) rs143745791 0.00132
NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu) rs189765261 0.00109
NM_001256071.3(RNF213):c.13782G>A (p.Ala4594=) rs145076497 0.00108
NM_001256071.3(RNF213):c.305C>G (p.Ser102Cys) rs143184273 0.00103
NM_001256071.3(RNF213):c.397C>A (p.Leu133Met) rs149177904 0.00099
NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn) rs144769597 0.00099
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys) rs139265462 0.00061
NM_001613.4(ACTA2):c.*28A>T rs143005546 0.00054
NM_001256071.3(RNF213):c.12648G>A (p.Glu4216=) rs146731742 0.00033
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile) rs201733659 0.00018
NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val) rs534665632 0.00018
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr) rs148776624 0.00016
NR_125373.1(ACTA2-AS1):n.690C>T rs367977687 0.00016
NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile) rs746640449 0.00009
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=) rs138687424 0.00008
NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln) rs766292366 0.00004
NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser) rs138223459 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys) rs753076389 0.00003
NM_001613.4(ACTA2):c.648G>A (p.Glu216=) rs775575485 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001256071.3(RNF213):c.1015C>T (p.Leu339Phe) rs906213655 0.00002
NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His) rs1321156693 0.00002
NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys) rs1241745586 0.00002
NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu) rs773785078 0.00002
NM_001613.4(ACTA2):c.129+5G>A rs373402293 0.00002
NM_001613.4(ACTA2):c.369+7A>G rs760471677 0.00002
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter) rs587777321 0.00001
NM_001130682.3(GUCY1A1):c.1086+1G>T rs587777320 0.00001
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) rs373182378 0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu) rs778482758 0.00001
NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val) rs746280089 0.00001
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys) rs556513891 0.00001
NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala) rs1253832723 0.00001
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr) rs1383472329 0.00001
NM_001256071.3(RNF213):c.2743C>T (p.Arg915Ter) rs750596095 0.00001
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly) rs779757924 0.00001
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter) rs772473154 0.00001
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly) rs757461793 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 0.00001
GRCh37/hg19 Xq28(chrX:148882560-149686856)x2
GRCh37/hg19 Xq28(chrX:154305031-154307464)
NC_000017.11:g.80392616_80422726del
NM_001001662.3(ZNF782):c.962G>A (p.Arg321His) rs146058964
NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)
NM_001130682.3(GUCY1A1):c.1086+1G>A rs587777320
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs) rs587777322
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His) rs369215353
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) rs751701114
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter) rs1368733883
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001141945.3(ACTA2):c.-23-3869A>G rs886047455
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr) rs777402744
NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met) rs1181813391
NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu) rs1555645286
NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly) rs2144460572
NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr) rs797045189
NM_001256071.3(RNF213):c.11999G>A (p.Cys4000Tyr)
NM_001256071.3(RNF213):c.12022G>A (p.Val4008Ile) rs762259446
NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn) rs1555675538
NM_001256071.3(RNF213):c.12050G>A (p.Cys4017Tyr)
NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe) rs1599150380
NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg) rs1555675572
NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro) rs1555675612
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln) rs1555676035
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg) rs2079442813
NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del) rs797045187
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe) rs2079443410
NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val) rs1555676146
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) rs1568149971
NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr) rs1568149984
NM_001256071.3(RNF213):c.12942+97del rs142169239
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn) rs2144536464
NM_001256071.3(RNF213):c.13747C>T (p.Arg4583Trp) rs1599190981
NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser) rs1356925198
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile) rs2080083465
NM_001256071.3(RNF213):c.14822T>A (p.Val4941Glu)
NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln) rs797045188
NM_001256071.3(RNF213):c.15290C>T (p.Pro5097Leu)
NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del) rs797045186
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
NM_001256071.3(RNF213):c.2812-3C>G
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter) rs546643996
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_001256071.3(RNF213):c.9844_9846del (p.Trp3282del)
NM_001267571.2(TBC1D2):c.2261C>A (p.Thr754Lys) rs774546155
NM_001613.4(ACTA2):c.*122T>C rs886047451
NM_001613.4(ACTA2):c.129+4A>G rs1390177518
NM_001613.4(ACTA2):c.290G>A (p.Arg97His)
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr) rs1845812659
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu) rs141538225
NM_018043.7(ANO1):c.1972A>G (p.Met658Val)
NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)
NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)
NM_018676.4(THSD1):c.1021+5G>A
NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter) rs1594095223

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