ClinVar Miner

List of variants in gene RFX6 studied for not provided

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Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_173560.4(RFX6):c.972+107T>G rs2184343 0.82742
NM_173560.4(RFX6):c.1183-269T>A rs2008540 0.82733
NM_173560.4(RFX6):c.567-284A>C rs339339 0.82324
NM_173560.4(RFX6):c.645-218G>A rs339342 0.80673
NM_173560.4(RFX6):c.672+296C>T rs173089 0.80661
NM_173560.4(RFX6):c.644+153T>C rs1406980 0.36207
NM_173560.4(RFX6):c.1022+250T>C rs9489066 0.35743
NM_173560.4(RFX6):c.1182+134G>A rs1321366 0.35743
NM_173560.4(RFX6):c.973-59T>C rs6936629 0.35732
NM_173560.4(RFX6):c.567-36T>C rs339340 0.28623
NM_173560.4(RFX6):c.1555+289T>C rs7774506 0.23612
NM_173560.4(RFX6):c.2611+48C>T rs673055 0.23576
NM_173560.4(RFX6):c.2611+253G>A rs661894 0.23572
NM_173560.4(RFX6):c.2612-297C>T rs643474 0.23552
NM_173560.4(RFX6):c.1914T>C (p.Gly638=) rs611349 0.23550
NM_173560.4(RFX6):c.2612-153A>G rs639646 0.23546
NM_173560.4(RFX6):c.2399-297T>C rs596732 0.23542
NM_173560.4(RFX6):c.1886-283A>C rs676152 0.23539
NM_173560.4(RFX6):c.*90T>G rs630695 0.23512
NM_173560.4(RFX6):c.1542T>C (p.Asn514=) rs7770158 0.23461
NM_173560.4(RFX6):c.2399-75A>G rs597688 0.23385
NM_173560.4(RFX6):c.*3C>A rs631089 0.23330
NM_173560.4(RFX6):c.1383T>C (p.Thr461=) rs7764347 0.23095
NM_173560.4(RFX6):c.2398+230A>G rs688949 0.21918
NM_173560.4(RFX6):c.2611+168G>A rs17208849 0.08600
NM_173560.4(RFX6):c.2611+252G>A rs35622115 0.08293
NM_173560.4(RFX6):c.973-114A>C rs13213246 0.08185
NM_173560.4(RFX6):c.644+73G>A rs1512654 0.07266
NM_173560.4(RFX6):c.566+220C>A rs73765878 0.07259
NM_173560.4(RFX6):c.1327+133A>T rs532320494 0.04940
NM_173560.4(RFX6):c.2611+60A>T rs78528223 0.01764
NM_173560.4(RFX6):c.2398+44A>G rs73563500 0.01706
NM_173560.4(RFX6):c.1328-10T>C rs182606018 0.01645
NM_173560.4(RFX6):c.672+31C>T rs117309016 0.01465
NM_173560.4(RFX6):c.1678+59A>G rs77987927 0.01374
NM_173560.4(RFX6):c.2166C>T (p.Thr722=) rs73765886 0.01325
NM_173560.4(RFX6):c.1327C>T (p.His443Tyr) rs77146142 0.01320
NM_173560.4(RFX6):c.1023-34C>T rs79696244 0.01319
NM_173560.4(RFX6):c.1437+137G>A rs73563484 0.00703
NM_173560.4(RFX6):c.644+56T>C rs115615166 0.00456
NM_173560.4(RFX6):c.2398+17G>T rs142448060 0.00437
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly) rs144648002 0.00436
NM_173560.4(RFX6):c.1328-131A>T rs115159609 0.00343
NM_173560.4(RFX6):c.2398+8T>C rs147610306 0.00338
NM_173560.4(RFX6):c.673-3T>C rs141461683 0.00291
NM_173560.4(RFX6):c.985G>A (p.Val329Ile) rs139343836 0.00291
NM_173560.4(RFX6):c.381-129C>T rs187105760 0.00289
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala) rs138343620 0.00225
NM_173560.4(RFX6):c.2097C>G (p.Thr699=) rs78840700 0.00192
NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu) rs57924353 0.00124
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_173560.4(RFX6):c.1182+26A>T rs139197190 0.00094
NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu) rs201522681 0.00093
NM_173560.4(RFX6):c.2553G>T (p.Gln851His) rs145117989 0.00070
NM_173560.4(RFX6):c.1927C>T (p.Pro643Ser) rs572059852 0.00064
NM_173560.4(RFX6):c.2438G>C (p.Arg813Thr) rs142162854 0.00061
NM_173560.4(RFX6):c.268G>A (p.Ala90Thr) rs377721888 0.00049
NM_173560.4(RFX6):c.2652A>G (p.Gln884=) rs150612938 0.00024
NM_173560.4(RFX6):c.505-9T>C rs78287946 0.00021
NM_173560.4(RFX6):c.1437+13G>A rs375762913 0.00020
NM_173560.4(RFX6):c.507A>T (p.Thr169=) rs151067974 0.00019
NM_173560.4(RFX6):c.2464G>A (p.Val822Ile) rs373007099 0.00014
NM_173560.4(RFX6):c.2543G>A (p.Gly848Asp) rs372758721 0.00011
NM_173560.4(RFX6):c.738C>T (p.Ser246=) rs372387409 0.00006
NM_173560.4(RFX6):c.695C>T (p.Ser232Leu) rs780273514 0.00003
NM_173560.4(RFX6):c.1599C>T (p.Leu533=) rs200439382 0.00002
NM_173560.4(RFX6):c.1130G>A (p.Arg377Gln) rs1353404589 0.00001
NM_173560.4(RFX6):c.1283C>A (p.Thr428Asn) rs200248374 0.00001
NM_173560.4(RFX6):c.1438A>G (p.Thr480Ala) rs374609386 0.00001
NM_173560.4(RFX6):c.1606A>G (p.Met536Val) rs752212354 0.00001
NM_173560.4(RFX6):c.2236G>A (p.Gly746Arg) rs1275218846 0.00001
NM_173560.4(RFX6):c.2515G>A (p.Asp839Asn) rs763502980 0.00001
NM_173560.4(RFX6):c.2596C>T (p.Arg866Ter) rs749827445 0.00001
NM_173560.4(RFX6):c.567-13G>A rs1774884856 0.00001
NM_173560.4(RFX6):c.940A>C (p.Ile314Leu) rs1775461880 0.00001
NM_173560.4(RFX6):c.1037_1038del (p.Ile346fs)
NM_173560.4(RFX6):c.1050T>C (p.Ala350=)
NM_173560.4(RFX6):c.1147C>T (p.Leu383=)
NM_173560.4(RFX6):c.1164T>A (p.Ser388=) rs2114696170
NM_173560.4(RFX6):c.1182+19C>T
NM_173560.4(RFX6):c.1182+270_1182+272del rs34459606
NM_173560.4(RFX6):c.1183-13T>C
NM_173560.4(RFX6):c.1183-14C>T
NM_173560.4(RFX6):c.1183-5T>C
NM_173560.4(RFX6):c.1275C>G (p.Ala425=)
NM_173560.4(RFX6):c.1291G>A (p.Gly431Ser)
NM_173560.4(RFX6):c.1304C>T (p.Thr435Ile)
NM_173560.4(RFX6):c.1327+12C>T rs2114697408
NM_173560.4(RFX6):c.1328-20T>C
NM_173560.4(RFX6):c.1328-8dup
NM_173560.4(RFX6):c.1429G>A (p.Val477Ile)
NM_173560.4(RFX6):c.1437+8T>A rs377555960
NM_173560.4(RFX6):c.1536G>C (p.Leu512Phe) rs1209949319
NM_173560.4(RFX6):c.1555+9C>T
NM_173560.4(RFX6):c.1556-14C>T
NM_173560.4(RFX6):c.1556-9A>T
NM_173560.4(RFX6):c.1562T>G (p.Phe521Cys) rs917111340
NM_173560.4(RFX6):c.1584C>T (p.Leu528=)
NM_173560.4(RFX6):c.1604C>A (p.Ala535Asp) rs2114701294
NM_173560.4(RFX6):c.1606_1614del (p.Met536_Thr538del) rs2114701298
NM_173560.4(RFX6):c.1635G>A (p.Glu545=)
NM_173560.4(RFX6):c.1652T>G (p.Leu551Ter)
NM_173560.4(RFX6):c.1667T>C (p.Met556Thr)
NM_173560.4(RFX6):c.1678+8A>G
NM_173560.4(RFX6):c.1886-20G>A rs2114703675
NM_173560.4(RFX6):c.1954C>T (p.Arg652Ter)
NM_173560.4(RFX6):c.1984G>T (p.Ala662Ser)
NM_173560.4(RFX6):c.1992G>T (p.Arg664Ser) rs2114703852
NM_173560.4(RFX6):c.2038A>G (p.Thr680Ala)
NM_173560.4(RFX6):c.2053A>G (p.Ile685Val)
NM_173560.4(RFX6):c.2117T>C (p.Val706Ala)
NM_173560.4(RFX6):c.2156del (p.Pro719fs)
NM_173560.4(RFX6):c.2176C>T (p.Arg726Ter) rs144648002
NM_173560.4(RFX6):c.2193T>C (p.Thr731=)
NM_173560.4(RFX6):c.2196A>G (p.Glu732=)
NM_173560.4(RFX6):c.2234C>T (p.Ala745Val)
NM_173560.4(RFX6):c.2235G>A (p.Ala745=)
NM_173560.4(RFX6):c.224-5A>G
NM_173560.4(RFX6):c.2250C>T (p.Asn750=)
NM_173560.4(RFX6):c.2255G>A (p.Arg752Gln)
NM_173560.4(RFX6):c.2261C>T (p.Pro754Leu)
NM_173560.4(RFX6):c.2281C>A (p.Leu761Met)
NM_173560.4(RFX6):c.2302A>C (p.Asn768His)
NM_173560.4(RFX6):c.2302A>G (p.Asn768Asp)
NM_173560.4(RFX6):c.2303A>G (p.Asn768Ser)
NM_173560.4(RFX6):c.2328C>T (p.Ser776=)
NM_173560.4(RFX6):c.2358C>G (p.Ala786=)
NM_173560.4(RFX6):c.2361C>G (p.Ser787Arg)
NM_173560.4(RFX6):c.2398+220_2398+223dup rs60638457
NM_173560.4(RFX6):c.2398+223del rs60638457
NM_173560.4(RFX6):c.2398+223dup rs60638457
NM_173560.4(RFX6):c.2398+257G>C rs10872150
NM_173560.4(RFX6):c.2435A>C (p.His812Pro)
NM_173560.4(RFX6):c.245del (p.Asn82fs)
NM_173560.4(RFX6):c.2486G>C (p.Arg829Pro)
NM_173560.4(RFX6):c.2497C>T (p.Pro833Ser)
NM_173560.4(RFX6):c.2499del (p.Tyr834fs)
NM_173560.4(RFX6):c.2514C>T (p.His838=)
NM_173560.4(RFX6):c.2593T>A (p.Cys865Ser)
NM_173560.4(RFX6):c.2611G>A (p.Ala871Thr)
NM_173560.4(RFX6):c.2612-247C>T rs639170
NM_173560.4(RFX6):c.2637T>C (p.Pro879=)
NM_173560.4(RFX6):c.270C>T (p.Ala90=)
NM_173560.4(RFX6):c.271G>A (p.Asp91Asn)
NM_173560.4(RFX6):c.2724A>C (p.Glu908Asp) rs370603449
NM_173560.4(RFX6):c.2758T>A (p.Phe920Ile) rs2114708295
NM_173560.4(RFX6):c.380+10G>T
NM_173560.4(RFX6):c.380+13C>T
NM_173560.4(RFX6):c.380+276C>T rs11754683
NM_173560.4(RFX6):c.389A>G (p.Glu130Gly)
NM_173560.4(RFX6):c.402A>G (p.Val134=)
NM_173560.4(RFX6):c.504+11C>T
NM_173560.4(RFX6):c.504+155A>C rs57167027
NM_173560.4(RFX6):c.504+19C>T
NM_173560.4(RFX6):c.504+8A>G
NM_173560.4(RFX6):c.506C>T (p.Thr169Ile) rs2114662048
NM_173560.4(RFX6):c.511C>T (p.Arg171Cys)
NM_173560.4(RFX6):c.554G>C (p.Arg185Thr) rs1774608731
NM_173560.4(RFX6):c.560A>G (p.His187Arg)
NM_173560.4(RFX6):c.566+154del rs34335008
NM_173560.4(RFX6):c.566+154dup rs34335008
NM_173560.4(RFX6):c.566+5G>C rs2114662145
NM_173560.4(RFX6):c.566+9C>A
NM_173560.4(RFX6):c.567-15C>G
NM_173560.4(RFX6):c.573T>C (p.His191=)
NM_173560.4(RFX6):c.576C>A (p.Tyr192Ter) rs781291978
NM_173560.4(RFX6):c.609T>G (p.Tyr203Ter)
NM_173560.4(RFX6):c.618C>T (p.Ser206=)
NM_173560.4(RFX6):c.639G>C (p.Leu213Phe)
NM_173560.4(RFX6):c.644+15T>C
NM_173560.4(RFX6):c.645-17T>C
NM_173560.4(RFX6):c.686G>A (p.Arg229His)
NM_173560.4(RFX6):c.696G>A (p.Ser232=)
NM_173560.4(RFX6):c.750T>G (p.Leu250=)
NM_173560.4(RFX6):c.756C>T (p.Tyr252=)
NM_173560.4(RFX6):c.762A>T (p.Gly254=)
NM_173560.4(RFX6):c.781-10C>T
NM_173560.4(RFX6):c.781-6A>T
NM_173560.4(RFX6):c.788C>T (p.Thr263Met)
NM_173560.4(RFX6):c.789G>A (p.Thr263=)
NM_173560.4(RFX6):c.809C>G (p.Thr270Ser)
NM_173560.4(RFX6):c.813C>T (p.His271=)
NM_173560.4(RFX6):c.859-4C>T
NM_173560.4(RFX6):c.872T>A (p.Leu291Ter)
NM_173560.4(RFX6):c.886C>T (p.Gln296Ter)
NM_173560.4(RFX6):c.907C>T (p.Leu303Phe)
NM_173560.4(RFX6):c.912C>T (p.Pro304=)
NM_173560.4(RFX6):c.918C>A (p.Leu306=)
NM_173560.4(RFX6):c.918C>T (p.Leu306=) rs138602597
NM_173560.4(RFX6):c.938A>C (p.Asp313Ala)
NM_173560.4(RFX6):c.972+13G>T
NM_173560.4(RFX6):c.972+47G>A rs1321372
NM_173560.4(RFX6):c.973-172_973-169del rs200053583

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