ClinVar Miner

List of variants in gene RNF213 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr) rs148731719 0.00799
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys) rs147868237 0.00389
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val) rs201493500 0.00317
NM_001256071.3(RNF213):c.8110C>T (p.Arg2704Trp) rs144074554 0.00216
NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp) rs116608867 0.00212
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_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu) rs189765261 0.00109
NM_001256071.3(RNF213):c.6979A>G (p.Asn2327Asp) rs138044665 0.00106
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_001256071.3(RNF213):c.13592C>T (p.Pro4531Leu) rs143904490 0.00055
NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr) rs375097553 0.00034
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
NM_001256071.3(RNF213):c.10754G>A (p.Arg3585His) rs372211904 0.00013
NM_001256071.3(RNF213):c.8179C>T (p.Arg2727Trp) rs375688032 0.00010
NM_001256071.3(RNF213):c.1617C>A (p.Ser539Arg) rs200537097 0.00008
NM_001256071.3(RNF213):c.10424-5T>A rs766907090 0.00006
NM_001256071.3(RNF213):c.5707G>A (p.Glu1903Lys) rs754786999 0.00006
NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln) rs766292366 0.00004
NM_001256071.3(RNF213):c.12248C>T (p.Pro4083Leu) rs371202144 0.00004
NM_001256071.3(RNF213):c.13087C>T (p.Pro4363Ser) rs149230960 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.440C>T (p.Pro147Leu) rs749680373 0.00004
NM_001256071.3(RNF213):c.9767C>T (p.Ser3256Leu) rs529113475 0.00004
NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys) rs753076389 0.00003
NM_001256071.3(RNF213):c.6713G>T (p.Ser2238Ile) rs567396131 0.00003
NM_001256071.3(RNF213):c.7456T>G (p.Phe2486Val) rs1304820534 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.5281A>G (p.Met1761Val) rs1474000142 0.00002
NM_001256071.3(RNF213):c.6808T>A (p.Ser2270Thr) rs768083947 0.00002
NM_001256071.3(RNF213):c.8203G>A (p.Gly2735Ser) rs149388081 0.00002
NM_001256071.3(RNF213):c.10567G>A (p.Gly3523Arg) rs547158013 0.00001
NM_001256071.3(RNF213):c.10759A>G (p.Ser3587Gly) rs977735877 0.00001
NM_001256071.3(RNF213):c.10879C>T (p.Arg3627Trp) rs141234263 0.00001
NM_001256071.3(RNF213):c.11540G>A (p.Trp3847Ter) rs1472128114 0.00001
NM_001256071.3(RNF213):c.11920G>A (p.Val3974Met) rs750689562 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.14430A>C (p.Arg4810Ser) rs765502583 0.00001
NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala) rs1253832723 0.00001
NM_001256071.3(RNF213):c.15212A>G (p.Gln5071Arg) rs142120906 0.00001
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr) rs1383472329 0.00001
NM_001256071.3(RNF213):c.194C>T (p.Pro65Leu) rs761090898 0.00001
NM_001256071.3(RNF213):c.4528-5C>G rs758680846 0.00001
NM_001256071.3(RNF213):c.5141C>T (p.Thr1714Ile) rs1353450124 0.00001
NM_001256071.3(RNF213):c.5515G>A (p.Glu1839Lys) rs369041141 0.00001
NM_001256071.3(RNF213):c.6710C>T (p.Pro2237Leu) rs748459913 0.00001
NM_001256071.3(RNF213):c.7602G>A (p.Met2534Ile) rs944185612 0.00001
NM_001256071.3(RNF213):c.9685G>C (p.Val3229Leu) rs774529826 0.00001
NM_001256071.3(RNF213):c.9712G>A (p.Gly3238Ser) rs1377261392 0.00001
GRCh37/hg19 17q25.3(chr17:78230729-78326769)x3
GRCh37/hg19 17q25.3(chr17:78331423-78348447)x1
NC_000017.10:g.(?_78332068)_(78341963_?)del
NM_001256071.3(RNF213):c.10034C>T (p.Thr3345Ile)
NM_001256071.3(RNF213):c.10088G>A (p.Arg3363Gln)
NM_001256071.3(RNF213):c.10089-8T>C
NM_001256071.3(RNF213):c.10336C>T (p.Arg3446Trp)
NM_001256071.3(RNF213):c.10463C>T (p.Ala3488Val)
NM_001256071.3(RNF213):c.10496TGGCAGAGG[1] (p.3499VAE[1])
NM_001256071.3(RNF213):c.10591G>A (p.Asp3531Asn)
NM_001256071.3(RNF213):c.10676G>A (p.Arg3559Gln)
NM_001256071.3(RNF213):c.10822G>T (p.Ala3608Ser)
NM_001256071.3(RNF213):c.10875G>A (p.Trp3625Ter) rs1448177811
NM_001256071.3(RNF213):c.1102G>A (p.Val368Met)
NM_001256071.3(RNF213):c.11066A>T (p.Glu3689Val)
NM_001256071.3(RNF213):c.11074T>C (p.Tyr3692His)
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)
NM_001256071.3(RNF213):c.1112+6G>A rs1411900717
NM_001256071.3(RNF213):c.11386A>G (p.Arg3796Gly)
NM_001256071.3(RNF213):c.11482T>A (p.Phe3828Ile)
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001256071.3(RNF213):c.1166_1167del (p.Leu389fs)
NM_001256071.3(RNF213):c.11695G>A (p.Asp3899Asn)
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.1181A>G (p.Asn394Ser)
NM_001256071.3(RNF213):c.11848G>C (p.Glu3950Gln) rs149449382
NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu) rs1555645286
NM_001256071.3(RNF213):c.11893G>A (p.Val3965Met)
NM_001256071.3(RNF213):c.11987C>T (p.Pro3996Leu)
NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr) rs797045189
NM_001256071.3(RNF213):c.11995A>C (p.Ile3999Leu) rs781152962
NM_001256071.3(RNF213):c.11999G>A (p.Cys4000Tyr)
NM_001256071.3(RNF213):c.12022G>A (p.Val4008Ile) rs762259446
NM_001256071.3(RNF213):c.12022G>T (p.Val4008Phe) rs762259446
NM_001256071.3(RNF213):c.12023T>G (p.Val4008Gly)
NM_001256071.3(RNF213):c.12059G>A (p.Cys4020Tyr)
NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg) rs1555675572
NM_001256071.3(RNF213):c.12094T>G (p.Cys4032Gly)
NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro) rs1555675612
NM_001256071.3(RNF213):c.12165T>G (p.Ile4055Met) rs2144484990
NM_001256071.3(RNF213):c.12172C>T (p.His4058Tyr)
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln) rs1555676035
NM_001256071.3(RNF213):c.12266T>C (p.Ile4089Thr) rs1883768320
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg) rs2079442813
NM_001256071.3(RNF213):c.12341C>T (p.Thr4114Ile) rs2079442813
NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val) rs1555676146
NM_001256071.3(RNF213):c.12383C>T (p.Pro4128Leu) rs2144488212
NM_001256071.3(RNF213):c.125C>T (p.Ala42Val)
NM_001256071.3(RNF213):c.12858G>T (p.Gln4286His) rs2144519655
NM_001256071.3(RNF213):c.12874G>A (p.Val4292Met)
NM_001256071.3(RNF213):c.12928G>A (p.Val4310Ile)
NM_001256071.3(RNF213):c.13016A>C (p.Asp4339Ala)
NM_001256071.3(RNF213):c.13039G>A (p.Glu4347Lys)
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn) rs2144536464
NM_001256071.3(RNF213):c.13096C>T (p.Gln4366Ter)
NM_001256071.3(RNF213):c.13150_13151delinsGT (p.Arg4384Val) rs1555678066
NM_001256071.3(RNF213):c.13173_13178dup (p.Thr4393_Pro4394dup) rs2079734111
NM_001256071.3(RNF213):c.13428+4A>C
NM_001256071.3(RNF213):c.13631A>T (p.His4544Leu)
NM_001256071.3(RNF213):c.13691G>A (p.Arg4564Gln)
NM_001256071.3(RNF213):c.13747C>T (p.Arg4583Trp) rs1599190981
NM_001256071.3(RNF213):c.13751T>C (p.Leu4584Pro)
NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser) rs1356925198
NM_001256071.3(RNF213):c.13939C>A (p.Arg4647Ser)
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile) rs2080083465
NM_001256071.3(RNF213):c.1432C>T (p.Arg478Cys) rs1460385786
NM_001256071.3(RNF213):c.14806A>G (p.Asn4936Asp)
NM_001256071.3(RNF213):c.14822T>G (p.Val4941Gly)
NM_001256071.3(RNF213):c.14824_14844dup (p.Glu4942_Val4948dup) rs2144642474
NM_001256071.3(RNF213):c.14826G>C (p.Glu4942Asp)
NM_001256071.3(RNF213):c.14842G>A (p.Val4948Met)
NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln) rs797045188
NM_001256071.3(RNF213):c.14872C>T (p.Arg4958Trp)
NM_001256071.3(RNF213):c.1508C>T (p.Pro503Leu)
NM_001256071.3(RNF213):c.15290C>T (p.Pro5097Leu)
NM_001256071.3(RNF213):c.15320C>T (p.Ala5107Val)
NM_001256071.3(RNF213):c.15345G>C (p.Lys5115Asn)
NM_001256071.3(RNF213):c.15461C>T (p.Pro5154Leu)
NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del) rs797045186
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
NM_001256071.3(RNF213):c.1736T>C (p.Leu579Ser) rs2143387835
NM_001256071.3(RNF213):c.1789C>A (p.His597Asn) rs757513532
NM_001256071.3(RNF213):c.2189T>G (p.Phe730Cys) rs2143453603
NM_001256071.3(RNF213):c.2192G>A (p.Arg731Gln)
NM_001256071.3(RNF213):c.2272T>C (p.Phe758Leu)
NM_001256071.3(RNF213):c.2299_2300del (p.Leu767fs)
NM_001256071.3(RNF213):c.2428-7G>C rs768419878
NM_001256071.3(RNF213):c.2502-11_2502-10del rs751005876
NM_001256071.3(RNF213):c.2606C>A (p.Ala869Asp)
NM_001256071.3(RNF213):c.2692T>A (p.Ser898Thr) rs1019877957
NM_001256071.3(RNF213):c.2716A>G (p.Thr906Ala)
NM_001256071.3(RNF213):c.2758A>G (p.Lys920Glu)
NM_001256071.3(RNF213):c.2812-3C>G
NM_001256071.3(RNF213):c.2822G>T (p.Arg941Leu)
NM_001256071.3(RNF213):c.2968A>G (p.Ser990Gly) rs1004818115
NM_001256071.3(RNF213):c.2986G>A (p.Glu996Lys)
NM_001256071.3(RNF213):c.3025-2A>C
NM_001256071.3(RNF213):c.3067C>T (p.Arg1023Trp)
NM_001256071.3(RNF213):c.3149A>G (p.His1050Arg)
NM_001256071.3(RNF213):c.3215C>T (p.Ala1072Val)
NM_001256071.3(RNF213):c.3373A>G (p.Lys1125Glu) rs1180659875
NM_001256071.3(RNF213):c.3397_3399del (p.Gln1133del)
NM_001256071.3(RNF213):c.3529G>A (p.Val1177Met)
NM_001256071.3(RNF213):c.3574A>T (p.Asn1192Tyr)
NM_001256071.3(RNF213):c.3608C>T (p.Ser1203Leu)
NM_001256071.3(RNF213):c.3674A>G (p.Asp1225Gly)
NM_001256071.3(RNF213):c.3685G>C (p.Asp1229His) rs1180598847
NM_001256071.3(RNF213):c.3738G>C (p.Glu1246Asp)
NM_001256071.3(RNF213):c.3868C>T (p.His1290Tyr)
NM_001256071.3(RNF213):c.4000G>A (p.Asp1334Asn)
NM_001256071.3(RNF213):c.4031A>G (p.Lys1344Arg) rs2046444243
NM_001256071.3(RNF213):c.4070A>G (p.Lys1357Arg)
NM_001256071.3(RNF213):c.4132_4133del (p.Leu1378fs) rs2143979868
NM_001256071.3(RNF213):c.4402G>A (p.Ala1468Thr)
NM_001256071.3(RNF213):c.4421C>T (p.Ser1474Phe)
NM_001256071.3(RNF213):c.4515_4516delinsTT (p.Pro1506Ser)
NM_001256071.3(RNF213):c.4519A>G (p.Arg1507Gly)
NM_001256071.3(RNF213):c.4591C>T (p.Arg1531Cys)
NM_001256071.3(RNF213):c.467C>T (p.Thr156Met)
NM_001256071.3(RNF213):c.4753G>A (p.Val1585Met)
NM_001256071.3(RNF213):c.4907C>T (p.Thr1636Met)
NM_001256071.3(RNF213):c.5180C>T (p.Thr1727Met)
NM_001256071.3(RNF213):c.5294C>T (p.Pro1765Leu)
NM_001256071.3(RNF213):c.5321T>G (p.Leu1774Arg)
NM_001256071.3(RNF213):c.5465C>T (p.Pro1822Leu)
NM_001256071.3(RNF213):c.5513C>T (p.Ser1838Phe)
NM_001256071.3(RNF213):c.5600C>T (p.Pro1867Leu)
NM_001256071.3(RNF213):c.5622_5625dup (p.Leu1876fs) rs1599057892
NM_001256071.3(RNF213):c.5635C>T (p.Arg1879Cys)
NM_001256071.3(RNF213):c.5717G>A (p.Arg1906His)
NM_001256071.3(RNF213):c.5886C>A (p.Tyr1962Ter)
NM_001256071.3(RNF213):c.613C>T (p.Gln205Ter)
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_001256071.3(RNF213):c.6247A>T (p.Asn2083Tyr)
NM_001256071.3(RNF213):c.6265C>T (p.Arg2089Trp)
NM_001256071.3(RNF213):c.631_632delinsGT (p.Ser211Val)
NM_001256071.3(RNF213):c.6407A>G (p.Lys2136Arg)
NM_001256071.3(RNF213):c.6609dup (p.His2204fs)
NM_001256071.3(RNF213):c.6843G>A (p.Met2281Ile)
NM_001256071.3(RNF213):c.716A>T (p.Gln239Leu)
NM_001256071.3(RNF213):c.7245_7250delinsCGTTAG (p.Ile2417Ser) rs2144125296
NM_001256071.3(RNF213):c.7465_7466del (p.Ala2489fs)
NM_001256071.3(RNF213):c.7492A>C (p.Ile2498Leu)
NM_001256071.3(RNF213):c.7610G>A (p.Arg2537His)
NM_001256071.3(RNF213):c.7856T>C (p.Leu2619Pro)
NM_001256071.3(RNF213):c.7870G>C (p.Gly2624Arg)
NM_001256071.3(RNF213):c.8010C>G (p.Ser2670Arg)
NM_001256071.3(RNF213):c.8068G>A (p.Gly2690Arg)
NM_001256071.3(RNF213):c.8111G>A (p.Arg2704Gln)
NM_001256071.3(RNF213):c.8149G>A (p.Asp2717Asn)
NM_001256071.3(RNF213):c.8179C>G (p.Arg2727Gly)
NM_001256071.3(RNF213):c.817G>A (p.Asp273Asn)
NM_001256071.3(RNF213):c.8212C>G (p.Leu2738Val)
NM_001256071.3(RNF213):c.8626C>T (p.His2876Tyr)
NM_001256071.3(RNF213):c.8635G>A (p.Val2879Ile)
NM_001256071.3(RNF213):c.8916_8919del (p.Arg2972fs)
NM_001256071.3(RNF213):c.9179T>C (p.Phe3060Ser)
NM_001256071.3(RNF213):c.9204T>G (p.Ile3068Met)
NM_001256071.3(RNF213):c.9343G>A (p.Ala3115Thr)
NM_001256071.3(RNF213):c.9439C>T (p.Arg3147Cys)
NM_001256071.3(RNF213):c.962_963inv (p.Met321Thr)
NM_001256071.3(RNF213):c.9649G>A (p.Val3217Ile)
NM_001256071.3(RNF213):c.9656T>C (p.Ile3219Thr)
NM_001256071.3(RNF213):c.985G>A (p.Gly329Ser)
NM_001256071.3(RNF213):c.9917C>T (p.Thr3306Met)
NM_001256071.3(RNF213):c.9934C>G (p.His3312Asp)
NM_001256071.3(RNF213):c.9984C>A (p.His3328Gln)

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