ClinVar Miner

List of variants in gene RBBP8 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 309
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002894.3(RBBP8):c.604+162G>A rs7407415 0.99785
NM_002894.3(RBBP8):c.-98-343C>A rs7243256 0.67816
NM_002894.3(RBBP8):c.-98-336C>T rs9966323 0.67814
NM_002894.3(RBBP8):c.1940-156G>T rs4471804 0.51911
NM_002894.3(RBBP8):c.710-247G>A rs12958492 0.48701
NM_002894.3(RBBP8):c.2029-253G>A rs9945620 0.48113
NM_002894.3(RBBP8):c.2029-127T>A rs2305886 0.48105
NM_002894.3(RBBP8):c.248+179G>C rs9807119 0.18204
NM_002894.3(RBBP8):c.2144-82T>C rs58070094 0.18191
NM_002894.3(RBBP8):c.1939+56A>G rs62095211 0.18117
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_002894.3(RBBP8):c.2029-147G>A rs55990829 0.17554
NM_002894.3(RBBP8):c.2288-81C>T rs72889626 0.17292
NM_002894.3(RBBP8):c.808-196A>G rs62095210 0.16504
NM_002894.3(RBBP8):c.1939+205G>A rs147695190 0.06859
NM_002894.3(RBBP8):c.152+24A>T rs61195791 0.06208
NM_002894.3(RBBP8):c.807+182A>G rs78074885 0.05132
NM_002894.3(RBBP8):c.2144-210G>A rs3764480 0.05076
NM_002894.3(RBBP8):c.428+167G>A rs75468998 0.05076
NM_002894.3(RBBP8):c.2287+118G>A rs62095233 0.04870
NM_002894.3(RBBP8):c.153-79A>G rs74984158 0.02774
NM_002894.3(RBBP8):c.1939+12A>G rs60178443 0.01998
NM_002894.3(RBBP8):c.709+269T>C rs112596168 0.01822
NM_002894.3(RBBP8):c.709+139T>C rs113266350 0.01821
NM_002894.3(RBBP8):c.249-286T>C rs113284735 0.01800
NM_002894.3(RBBP8):c.1939+63A>G rs60034025 0.01776
NM_002894.3(RBBP8):c.2357+130C>T rs112251301 0.01751
NM_002894.3(RBBP8):c.2596+123G>C rs35286808 0.01722
NM_002894.3(RBBP8):c.110-239A>G rs76424504 0.01663
NM_002894.3(RBBP8):c.152+153G>A rs112262203 0.01591
NM_002894.3(RBBP8):c.248+210T>C rs76274883 0.01562
NM_002894.3(RBBP8):c.109+106G>C rs189666519 0.01332
NM_002894.3(RBBP8):c.2028+86C>T rs75850297 0.01072
NM_002894.3(RBBP8):c.2357+272G>A rs11875633 0.00911
NM_002894.3(RBBP8):c.1766G>A (p.Arg589His) rs111445733 0.00834
NM_002894.3(RBBP8):c.1644T>C (p.Asp548=) rs34780140 0.00746
NM_002894.3(RBBP8):c.110-300C>T rs116163207 0.00672
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414 0.00661
NM_002894.3(RBBP8):c.921-97C>A rs73398643 0.00651
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn) rs34678569 0.00540
NM_002894.3(RBBP8):c.2455-68G>A rs188960484 0.00539
NM_002894.3(RBBP8):c.1940-97G>T rs149476399 0.00537
NM_002894.3(RBBP8):c.109+225A>G rs371221175 0.00520
NM_002894.3(RBBP8):c.807+90A>G rs141673726 0.00515
NM_002894.3(RBBP8):c.2358-204T>C rs76497089 0.00438
NM_002894.3(RBBP8):c.605-196A>G rs192257363 0.00292
NM_002894.3(RBBP8):c.843G>A (p.Glu281=) rs61759887 0.00185
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg) rs139743319 0.00177
NM_002894.3(RBBP8):c.109+6A>G rs149189755 0.00083
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys) rs148713374 0.00072
NM_002894.3(RBBP8):c.492G>A (p.Pro164=) rs149495397 0.00072
NM_002894.3(RBBP8):c.1791G>A (p.Glu597=) rs139860603 0.00061
NM_002894.3(RBBP8):c.891A>G (p.Glu297=) rs140403315 0.00058
NM_002894.3(RBBP8):c.2516G>A (p.Arg839Gln) rs140196819 0.00051
NM_002894.3(RBBP8):c.303A>G (p.Lys101=) rs113314442 0.00051
NM_002894.3(RBBP8):c.871A>G (p.Lys291Glu) rs140295451 0.00048
NM_002894.3(RBBP8):c.329G>A (p.Arg110Gln) rs149842490 0.00046
NM_002894.3(RBBP8):c.1782G>A (p.Leu594=) rs138355903 0.00041
NM_002894.3(RBBP8):c.228C>T (p.Thr76=) rs139706715 0.00041
NM_002894.3(RBBP8):c.1318T>C (p.Leu440=) rs142458738 0.00039
NM_002894.3(RBBP8):c.2358-11T>C rs201702526 0.00036
NM_002894.3(RBBP8):c.1813-16A>G rs371231585 0.00035
NM_002894.3(RBBP8):c.1553A>G (p.Gln518Arg) rs368218004 0.00031
NM_002894.3(RBBP8):c.1290T>A (p.Thr430=) rs74565999 0.00029
NM_002894.3(RBBP8):c.1242A>T (p.Glu414Asp) rs199637354 0.00025
NM_002894.3(RBBP8):c.2074T>G (p.Cys692Gly) rs369646494 0.00025
NM_002894.3(RBBP8):c.110-15C>T rs201687908 0.00022
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro) rs369234115 0.00021
NM_002894.3(RBBP8):c.248+12A>C rs144411132 0.00020
NM_002894.3(RBBP8):c.279A>G (p.Ala93=) rs144391536 0.00020
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) rs121434388 0.00017
NM_002894.3(RBBP8):c.429-16T>C rs199948715 0.00017
NM_002894.3(RBBP8):c.1813-9C>A rs529873737 0.00016
NM_002894.3(RBBP8):c.2597-10T>G rs757154095 0.00016
NM_002894.3(RBBP8):c.1063A>G (p.Lys355Glu) rs200956310 0.00015
NM_002894.3(RBBP8):c.2630G>A (p.Arg877His) rs201195506 0.00014
NM_002894.3(RBBP8):c.1453T>C (p.Cys485Arg) rs144267335 0.00013
NM_002894.3(RBBP8):c.1504C>T (p.Arg502Cys) rs535624031 0.00011
NM_002894.3(RBBP8):c.2055A>G (p.Gly685=) rs773572628 0.00011
NM_002894.3(RBBP8):c.1632G>A (p.Thr544=) rs371151302 0.00009
NM_002894.3(RBBP8):c.2336C>T (p.Pro779Leu) rs144863982 0.00009
NM_002894.3(RBBP8):c.927A>G (p.Ser309=) rs370136343 0.00009
NM_002894.3(RBBP8):c.985G>A (p.Val329Ile) rs544256922 0.00009
NM_002894.3(RBBP8):c.1361G>T (p.Ser454Ile) rs372424470 0.00008
NM_002894.3(RBBP8):c.592G>A (p.Val198Met) rs781525750 0.00008
NM_002894.3(RBBP8):c.2024C>T (p.Thr675Ile) rs186820592 0.00006
NM_002894.3(RBBP8):c.2455-4T>G rs374660795 0.00006
NM_002894.3(RBBP8):c.428+18A>C rs748397077 0.00006
NM_002894.3(RBBP8):c.1243T>A (p.Ser415Thr) rs769800397 0.00005
NM_002894.3(RBBP8):c.2148A>T (p.Glu716Asp) rs763272012 0.00005
NM_002894.3(RBBP8):c.328C>T (p.Arg110Trp) rs372643826 0.00005
NM_002894.3(RBBP8):c.1771C>T (p.Arg591Cys) rs370311825 0.00004
NM_002894.3(RBBP8):c.1902T>C (p.Cys634=) rs201620586 0.00004
NM_002894.3(RBBP8):c.293A>G (p.His98Arg) rs146649234 0.00004
NM_002894.3(RBBP8):c.2257G>A (p.Glu753Lys) rs774631370 0.00003
NM_002894.3(RBBP8):c.2399G>A (p.Arg800Gln) rs759365253 0.00003
NM_002894.3(RBBP8):c.684T>C (p.Tyr228=) rs199995388 0.00003
NM_002894.3(RBBP8):c.726C>T (p.Ser242=) rs749719024 0.00003
NM_002894.3(RBBP8):c.1055A>C (p.Gln352Pro) rs780198609 0.00002
NM_002894.3(RBBP8):c.1072del (p.His358fs) rs754390284 0.00002
NM_002894.3(RBBP8):c.1147G>A (p.Ala383Thr) rs767858966 0.00002
NM_002894.3(RBBP8):c.1656G>T (p.Glu552Asp) rs778597655 0.00002
NM_002894.3(RBBP8):c.1745C>T (p.Ala582Val) rs756768828 0.00002
NM_002894.3(RBBP8):c.2358-3C>G rs773934541 0.00002
NM_002894.3(RBBP8):c.2435C>T (p.Thr812Met) rs778024948 0.00002
NM_002894.3(RBBP8):c.689A>C (p.Gln230Pro) rs984471348 0.00002
NM_002894.3(RBBP8):c.110-4T>G rs775067749 0.00001
NM_002894.3(RBBP8):c.1134A>G (p.Lys378=) rs368009600 0.00001
NM_002894.3(RBBP8):c.1328G>A (p.Arg443Gln) rs570967464 0.00001
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter) rs762396810 0.00001
NM_002894.3(RBBP8):c.153-19T>C rs751390014 0.00001
NM_002894.3(RBBP8):c.153-3T>C rs369315269 0.00001
NM_002894.3(RBBP8):c.1680C>T (p.Ile560=) rs1256114305 0.00001
NM_002894.3(RBBP8):c.1767T>A (p.Arg589=) rs1441219550 0.00001
NM_002894.3(RBBP8):c.1807A>G (p.Ile603Val) rs751482231 0.00001
NM_002894.3(RBBP8):c.1967G>A (p.Ser656Asn) rs533709575 0.00001
NM_002894.3(RBBP8):c.1976C>T (p.Pro659Leu) rs764427590 0.00001
NM_002894.3(RBBP8):c.2165A>C (p.Asp722Ala) rs750234883 0.00001
NM_002894.3(RBBP8):c.2358-2A>G rs761376714 0.00001
NM_002894.3(RBBP8):c.2498C>A (p.Ala833Asp) rs2046355858 0.00001
NM_002894.3(RBBP8):c.2579A>C (p.Gln860Pro) rs1009432371 0.00001
NM_002894.3(RBBP8):c.2620C>G (p.Pro874Ala) rs376801395 0.00001
NM_002894.3(RBBP8):c.2692T>C (p.Ter898Gln) rs1409422493 0.00001
NM_002894.3(RBBP8):c.362-7T>C rs750729123 0.00001
NM_002894.3(RBBP8):c.399G>A (p.Lys133=) rs370650360 0.00001
NM_002894.3(RBBP8):c.450A>G (p.Ala150=) rs1914978849 0.00001
NM_002894.3(RBBP8):c.530G>A (p.Arg177Gln) rs780012919 0.00001
NM_002894.3(RBBP8):c.703A>G (p.Met235Val) rs540122133 0.00001
NM_002894.3(RBBP8):c.93T>C (p.His31=) rs757365480 0.00001
NC_000018.9:g.(?_20586306)_(20586415_?)del
NM_002894.3(RBBP8):c.-99+17_-99+24del rs71890133
NM_002894.3(RBBP8):c.1071dup (p.His358fs) rs754547584
NM_002894.3(RBBP8):c.109+17A>G rs1567945135
NM_002894.3(RBBP8):c.110-16dup
NM_002894.3(RBBP8):c.110-172del rs148996166
NM_002894.3(RBBP8):c.110-18T>C
NM_002894.3(RBBP8):c.1110T>G (p.Ser370=)
NM_002894.3(RBBP8):c.1146T>C (p.Ser382=)
NM_002894.3(RBBP8):c.1167T>C (p.Ser389=) rs761177158
NM_002894.3(RBBP8):c.1203A>T (p.Ser401=)
NM_002894.3(RBBP8):c.1223_1228del (p.Ile408_Asn409del) rs757747543
NM_002894.3(RBBP8):c.1284T>C (p.Ser428=) rs1363051782
NM_002894.3(RBBP8):c.12G>A (p.Ser4=)
NM_002894.3(RBBP8):c.1316_1318del (p.Ser439del) rs772263225
NM_002894.3(RBBP8):c.1318T>A (p.Leu440Met)
NM_002894.3(RBBP8):c.1326C>G (p.Gly442=) rs2144702791
NM_002894.3(RBBP8):c.1369G>A (p.Glu457Lys)
NM_002894.3(RBBP8):c.1370A>C (p.Glu457Ala) rs1326405477
NM_002894.3(RBBP8):c.1379G>A (p.Cys460Tyr)
NM_002894.3(RBBP8):c.1383C>G (p.Pro461=)
NM_002894.3(RBBP8):c.1413C>T (p.Phe471=)
NM_002894.3(RBBP8):c.1445A>G (p.Asn482Ser) rs1048882254
NM_002894.3(RBBP8):c.1457_1458del (p.Val486fs) rs1915827870
NM_002894.3(RBBP8):c.1467A>G (p.Lys489=) rs1915829550
NM_002894.3(RBBP8):c.1477C>T (p.Leu493=)
NM_002894.3(RBBP8):c.1487G>A (p.Arg496Gln)
NM_002894.3(RBBP8):c.14G>A (p.Gly5Glu)
NM_002894.3(RBBP8):c.1505G>A (p.Arg502His)
NM_002894.3(RBBP8):c.152+1G>A rs768080162
NM_002894.3(RBBP8):c.1520A>G (p.Gln507Arg)
NM_002894.3(RBBP8):c.153-16_153-13del
NM_002894.3(RBBP8):c.153-17del rs764092434
NM_002894.3(RBBP8):c.153-6C>T
NM_002894.3(RBBP8):c.1566T>C (p.Tyr522=)
NM_002894.3(RBBP8):c.1584T>C (p.Ile528=)
NM_002894.3(RBBP8):c.1593C>A (p.Gly531=) rs767742972
NM_002894.3(RBBP8):c.1598C>T (p.Ser533Phe)
NM_002894.3(RBBP8):c.1612G>C (p.Ala538Pro)
NM_002894.3(RBBP8):c.1638C>G (p.Pro546=)
NM_002894.3(RBBP8):c.1687C>G (p.Pro563Ala)
NM_002894.3(RBBP8):c.1699T>A (p.Cys567Ser)
NM_002894.3(RBBP8):c.1700G>C (p.Cys567Ser)
NM_002894.3(RBBP8):c.1704T>A (p.Ser568=)
NM_002894.3(RBBP8):c.1705C>T (p.Pro569Ser)
NM_002894.3(RBBP8):c.1724T>C (p.Leu575Ser)
NM_002894.3(RBBP8):c.1739A>T (p.Glu580Val)
NM_002894.3(RBBP8):c.1743T>C (p.Asn581=) rs1337176632
NM_002894.3(RBBP8):c.1748T>A (p.Val583Asp) rs1555643982
NM_002894.3(RBBP8):c.1772G>C (p.Arg591Pro)
NM_002894.3(RBBP8):c.1812+16T>C
NM_002894.3(RBBP8):c.1812+18A>G
NM_002894.3(RBBP8):c.1813-12T>C
NM_002894.3(RBBP8):c.1815T>A (p.Ser605Arg)
NM_002894.3(RBBP8):c.1827T>C (p.His609=)
NM_002894.3(RBBP8):c.1834A>G (p.Ile612Val)
NM_002894.3(RBBP8):c.1865G>A (p.Gly622Glu) rs587780433
NM_002894.3(RBBP8):c.1925T>C (p.Leu642Pro)
NM_002894.3(RBBP8):c.1939+17C>T
NM_002894.3(RBBP8):c.1939+20G>A
NM_002894.3(RBBP8):c.1939+20G>T
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_002894.3(RBBP8):c.1940-20G>C
NM_002894.3(RBBP8):c.1940-8T>C
NM_002894.3(RBBP8):c.1940A>T (p.Asp647Val)
NM_002894.3(RBBP8):c.1955_1957del (p.Asn652del) rs2144722200
NM_002894.3(RBBP8):c.1958T>C (p.Ile653Thr)
NM_002894.3(RBBP8):c.1977G>A (p.Pro659=)
NM_002894.3(RBBP8):c.2028+13G>T
NM_002894.3(RBBP8):c.2029-19T>G
NM_002894.3(RBBP8):c.2029-4T>G
NM_002894.3(RBBP8):c.2029-5_2029-2del rs767111255
NM_002894.3(RBBP8):c.2061A>G (p.Thr687=)
NM_002894.3(RBBP8):c.2073C>T (p.Asp691=) rs2045883179
NM_002894.3(RBBP8):c.2079A>C (p.Thr693=)
NM_002894.3(RBBP8):c.2080T>A (p.Leu694Met)
NM_002894.3(RBBP8):c.2099T>C (p.Leu700Pro)
NM_002894.3(RBBP8):c.2143+1G>C rs2144728353
NM_002894.3(RBBP8):c.2143+92T>C rs78439784
NM_002894.3(RBBP8):c.2144-19C>T
NM_002894.3(RBBP8):c.2153G>C (p.Arg718Thr)
NM_002894.3(RBBP8):c.216C>A (p.Val72=)
NM_002894.3(RBBP8):c.2196A>T (p.Thr732=) rs1598730514
NM_002894.3(RBBP8):c.2203G>A (p.Glu735Lys) rs2045949901
NM_002894.3(RBBP8):c.220C>T (p.His74Tyr)
NM_002894.3(RBBP8):c.2225A>G (p.Asp742Gly)
NM_002894.3(RBBP8):c.2232C>T (p.Phe744=)
NM_002894.3(RBBP8):c.2254G>C (p.Glu752Gln)
NM_002894.3(RBBP8):c.2271C>T (p.Ala757=)
NM_002894.3(RBBP8):c.2287+14_2287+15del
NM_002894.3(RBBP8):c.2287+56_2287+60del rs758195724
NM_002894.3(RBBP8):c.2288-19G>A
NM_002894.3(RBBP8):c.2288-19G>C
NM_002894.3(RBBP8):c.2288-20T>C
NM_002894.3(RBBP8):c.2294G>T (p.Gly765Val)
NM_002894.3(RBBP8):c.2334G>A (p.Glu778=)
NM_002894.3(RBBP8):c.2337G>A (p.Pro779=)
NM_002894.3(RBBP8):c.2368T>C (p.Leu790=)
NM_002894.3(RBBP8):c.2436G>A (p.Thr812=) rs765273428
NM_002894.3(RBBP8):c.2436G>C (p.Thr812=)
NM_002894.3(RBBP8):c.2454+10A>T
NM_002894.3(RBBP8):c.2455-296del rs397735746
NM_002894.3(RBBP8):c.2455-296dup rs397735746
NM_002894.3(RBBP8):c.2455-297_2455-296dup rs397735746
NM_002894.3(RBBP8):c.2465A>T (p.Asp822Val) rs1254417814
NM_002894.3(RBBP8):c.2468T>C (p.Met823Thr) rs1468183314
NM_002894.3(RBBP8):c.2481A>C (p.Glu827Asp)
NM_002894.3(RBBP8):c.2487A>G (p.Glu829=) rs2046355464
NM_002894.3(RBBP8):c.249-17C>T
NM_002894.3(RBBP8):c.2494T>C (p.Leu832=)
NM_002894.3(RBBP8):c.2512C>T (p.His838Tyr)
NM_002894.3(RBBP8):c.2515C>T (p.Arg839Ter) rs1064796899
NM_002894.3(RBBP8):c.2539A>G (p.Thr847Ala)
NM_002894.3(RBBP8):c.2554del (p.Trp852fs)
NM_002894.3(RBBP8):c.255A>G (p.Arg85=)
NM_002894.3(RBBP8):c.2563G>C (p.Gly855Arg)
NM_002894.3(RBBP8):c.2576C>G (p.Thr859Ser)
NM_002894.3(RBBP8):c.2596+16G>C
NM_002894.3(RBBP8):c.2596+3G>A
NM_002894.3(RBBP8):c.2629C>T (p.Arg877Cys) rs774630835
NM_002894.3(RBBP8):c.2655C>T (p.Asn885=)
NM_002894.3(RBBP8):c.2656G>C (p.Ala886Pro) rs373041053
NM_002894.3(RBBP8):c.2658A>G (p.Ala886=)
NM_002894.3(RBBP8):c.2692T>A (p.Ter898Lys)
NM_002894.3(RBBP8):c.279A>C (p.Ala93=)
NM_002894.3(RBBP8):c.282A>G (p.Val94=)
NM_002894.3(RBBP8):c.296T>C (p.Met99Thr)
NM_002894.3(RBBP8):c.315G>A (p.Glu105=)
NM_002894.3(RBBP8):c.324T>C (p.Asn108=)
NM_002894.3(RBBP8):c.344A>G (p.Lys115Arg)
NM_002894.3(RBBP8):c.354A>G (p.Thr118=) rs2144592740
NM_002894.3(RBBP8):c.355G>A (p.Glu119Lys)
NM_002894.3(RBBP8):c.361+13T>C
NM_002894.3(RBBP8):c.361+269del rs112376497
NM_002894.3(RBBP8):c.361+269dup rs112376497
NM_002894.3(RBBP8):c.367G>T (p.Glu123Ter) rs370650618
NM_002894.3(RBBP8):c.368A>G (p.Glu123Gly) rs2144622700
NM_002894.3(RBBP8):c.3G>A (p.Met1Ile)
NM_002894.3(RBBP8):c.428+37T>C rs2336916
NM_002894.3(RBBP8):c.428+7A>G
NM_002894.3(RBBP8):c.438A>G (p.Gln146=)
NM_002894.3(RBBP8):c.446A>G (p.Gln149Arg) rs368670826
NM_002894.3(RBBP8):c.457C>G (p.Leu153Val)
NM_002894.3(RBBP8):c.48A>G (p.Thr16=)
NM_002894.3(RBBP8):c.516C>T (p.Gly172=)
NM_002894.3(RBBP8):c.517G>A (p.Val173Ile)
NM_002894.3(RBBP8):c.522C>T (p.Asn174=)
NM_002894.3(RBBP8):c.538G>T (p.Glu180Ter) rs2144655866
NM_002894.3(RBBP8):c.579A>G (p.Lys193=)
NM_002894.3(RBBP8):c.590C>G (p.Ser197Cys)
NM_002894.3(RBBP8):c.598G>A (p.Ala200Thr) rs1914995789
NM_002894.3(RBBP8):c.604+19T>C
NM_002894.3(RBBP8):c.604+1G>T rs587780432
NM_002894.3(RBBP8):c.604+1del
NM_002894.3(RBBP8):c.604+6_604+7del rs1222960014
NM_002894.3(RBBP8):c.605-11dup
NM_002894.3(RBBP8):c.605-12T>C
NM_002894.3(RBBP8):c.605-21_605-19del
NM_002894.3(RBBP8):c.605-48TCA[2] rs3052770
NM_002894.3(RBBP8):c.631A>G (p.Thr211Ala)
NM_002894.3(RBBP8):c.65A>C (p.Asp22Ala)
NM_002894.3(RBBP8):c.683A>G (p.Tyr228Cys) rs2144667799
NM_002894.3(RBBP8):c.6C>T (p.Asn2=)
NM_002894.3(RBBP8):c.709+10A>T
NM_002894.3(RBBP8):c.709+15G>A
NM_002894.3(RBBP8):c.709+18A>G
NM_002894.3(RBBP8):c.735C>G (p.Thr245=) rs2144685268
NM_002894.3(RBBP8):c.74C>T (p.Thr25Ile) rs751695183
NM_002894.3(RBBP8):c.772G>T (p.Ala258Ser)
NM_002894.3(RBBP8):c.800A>G (p.Glu267Gly)
NM_002894.3(RBBP8):c.808-11del rs368252010
NM_002894.3(RBBP8):c.808-16T>C
NM_002894.3(RBBP8):c.816A>G (p.Gln272=)
NM_002894.3(RBBP8):c.835G>A (p.Gly279Ser)
NM_002894.3(RBBP8):c.845T>A (p.Leu282His)
NM_002894.3(RBBP8):c.875A>T (p.Lys292Ile)
NM_002894.3(RBBP8):c.897A>G (p.Thr299=)
NM_002894.3(RBBP8):c.898A>G (p.Arg300Gly)
NM_002894.3(RBBP8):c.920+15G>A
NM_002894.3(RBBP8):c.920+15G>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.