ClinVar Miner

List of variants in gene RANBP2 reported as likely benign for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=) rs60199637 0.04502
NM_006267.5(RANBP2):c.2056-19A>G rs199880095 0.02155
NM_006267.5(RANBP2):c.5175A>G (p.Glu1725=) rs535428027 0.01063
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=) rs140275032 0.00951
NM_006267.5(RANBP2):c.1632-16T>C rs147266881 0.00948
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys) rs149207118 0.00617
NM_006267.5(RANBP2):c.-41G>T rs372373398 0.00331
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro) rs145284139 0.00133
NM_006267.5(RANBP2):c.9369+4G>A rs139387463 0.00108
NM_006267.5(RANBP2):c.2230G>C (p.Glu744Gln) rs2912840 0.00104
NM_006267.5(RANBP2):c.1274-13A>T rs1423837507 0.00098
NM_006267.5(RANBP2):c.8599+16G>A rs145152325 0.00087
NM_006267.5(RANBP2):c.5561A>G (p.Asn1854Ser) rs141379413 0.00083
NM_006267.5(RANBP2):c.1284A>G (p.Arg428=) rs142514679 0.00076
NM_006267.5(RANBP2):c.2243C>T (p.Ser748Leu) rs200940828 0.00072
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_006267.5(RANBP2):c.5950G>A (p.Gly1984Ser) rs375852855 0.00067
NM_006267.5(RANBP2):c.5801G>A (p.Arg1934His) rs149692552 0.00066
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_006267.5(RANBP2):c.8461A>C (p.Thr2821Pro) rs142231499 0.00061
NM_006267.5(RANBP2):c.2084A>C (p.Glu695Ala) rs148298842 0.00058
NM_006267.5(RANBP2):c.8075G>A (p.Gly2692Asp) rs111958052 0.00055
NM_006267.5(RANBP2):c.7463T>C (p.Val2488Ala) rs189289937 0.00051
NM_006267.5(RANBP2):c.6098A>G (p.Lys2033Arg) rs146851340 0.00046
NM_006267.5(RANBP2):c.7966A>G (p.Thr2656Ala) rs148596328 0.00041
NM_006267.5(RANBP2):c.9346G>A (p.Val3116Ile) rs150721983 0.00040
NM_006267.5(RANBP2):c.7411G>A (p.Val2471Ile) rs550688543 0.00039
NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu) rs137976808 0.00036
NM_006267.5(RANBP2):c.7039G>C (p.Gly2347Arg) rs151064332 0.00036
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) rs138022657 0.00036
NM_006267.5(RANBP2):c.8125G>A (p.Glu2709Lys) rs373969193 0.00029
NM_006267.5(RANBP2):c.5040C>T (p.Ala1680=) rs552993785 0.00028
NM_006267.5(RANBP2):c.6276G>A (p.Thr2092=) rs568128033 0.00026
NM_006267.5(RANBP2):c.5871A>G (p.Glu1957=) rs202117246 0.00024
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe) rs200750445 0.00022
NM_006267.5(RANBP2):c.1361G>A (p.Arg454Gln) rs779203901 0.00020
NM_006267.5(RANBP2):c.2340G>A (p.Pro780=) rs2912839 0.00019
NM_006267.5(RANBP2):c.492C>T (p.Asp164=) rs142217504 0.00019
NM_006267.5(RANBP2):c.1797A>G (p.Ile599Met) rs530276235 0.00018
NM_006267.5(RANBP2):c.3376C>T (p.Arg1126Trp) rs370285906 0.00017
NM_006267.5(RANBP2):c.2895T>C (p.Asn965=) rs140434238 0.00016
NM_006267.5(RANBP2):c.342A>T (p.Ala114=) rs140650569 0.00016
NM_006267.5(RANBP2):c.606A>G (p.Glu202=) rs2557924 0.00016
NM_006267.5(RANBP2):c.8613A>G (p.Gln2871=) rs369829153 0.00016
NM_006267.5(RANBP2):c.6171G>A (p.Leu2057=) rs199917317 0.00015
NM_006267.5(RANBP2):c.1642G>T (p.Val548Leu) rs1057954 0.00014
NM_006267.5(RANBP2):c.4534G>T (p.Ala1512Ser) rs184236392 0.00014
NM_006267.5(RANBP2):c.4707G>A (p.Pro1569=) rs757396599 0.00014
NM_006267.5(RANBP2):c.5979C>T (p.Ser1993=) rs757493880 0.00014
NM_006267.5(RANBP2):c.8031C>T (p.Phe2677=) rs143766371 0.00014
NM_006267.5(RANBP2):c.1225A>G (p.Ile409Val) rs201087513 0.00012
NM_006267.5(RANBP2):c.543G>A (p.Leu181=) rs146460580 0.00012
NM_006267.5(RANBP2):c.6680A>G (p.Tyr2227Cys) rs2557901 0.00012
NM_006267.5(RANBP2):c.9219C>T (p.Asp3073=) rs149605647 0.00011
NM_006267.5(RANBP2):c.1602G>A (p.Ala534=) rs764385067 0.00010
NM_006267.5(RANBP2):c.1737A>C (p.Ala579=) rs139276330 0.00010
NM_006267.5(RANBP2):c.1803A>G (p.Arg601=) rs371593092 0.00010
NM_006267.5(RANBP2):c.732T>G (p.Leu244=) rs374781899 0.00010
NM_006267.5(RANBP2):c.8761-4A>G rs199908301 0.00010
NM_006267.5(RANBP2):c.1947C>T (p.Asp649=) rs752018090 0.00009
NM_006267.5(RANBP2):c.4152G>A (p.Glu1384=) rs200253800 0.00009
NM_006267.5(RANBP2):c.7464A>G (p.Val2488=) rs368598843 0.00009
NM_006267.5(RANBP2):c.7617A>T (p.Ser2539=) rs143675099 0.00009
NM_006267.5(RANBP2):c.8670C>T (p.Ala2890=) rs199918785 0.00009
NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=) rs779450120 0.00009
NM_006267.5(RANBP2):c.1761C>T (p.Ser587=) rs199659469 0.00007
NM_006267.5(RANBP2):c.324T>C (p.Asp108=) rs375199174 0.00006
NM_006267.5(RANBP2):c.366C>A (p.Ala122=) rs201782168 0.00006
NM_006267.5(RANBP2):c.4080C>T (p.Ser1360=) rs769596488 0.00006
NM_006267.5(RANBP2):c.6342T>C (p.Asp2114=) rs529005450 0.00006
NM_006267.5(RANBP2):c.6120A>G (p.Val2040=) rs1056562628 0.00005
NM_006267.5(RANBP2):c.7605C>T (p.Phe2535=) rs535331371 0.00005
NM_006267.5(RANBP2):c.9369+8T>C rs534483974 0.00005
NM_006267.5(RANBP2):c.1738G>A (p.Glu580Lys) rs1057956 0.00004
NM_006267.5(RANBP2):c.1911C>T (p.Asp637=) rs202210294 0.00004
NM_006267.5(RANBP2):c.1917+9G>A rs570751636 0.00004
NM_006267.5(RANBP2):c.1918-10G>A rs772940794 0.00004
NM_006267.5(RANBP2):c.2142C>T (p.Thr714=) rs371899344 0.00004
NM_006267.5(RANBP2):c.6461C>G (p.Pro2154Arg) rs751375908 0.00004
NM_006267.5(RANBP2):c.7182T>C (p.Asn2394=) rs375284697 0.00004
NM_006267.5(RANBP2):c.8100A>G (p.Glu2700=) rs764139070 0.00004
NM_006267.5(RANBP2):c.8370C>G (p.Phe2790Leu) rs150773903 0.00004
NM_006267.5(RANBP2):c.8498-5G>A rs1471380537 0.00004
NM_006267.5(RANBP2):c.1425A>G (p.Ala475=) rs745596658 0.00003
NM_006267.5(RANBP2):c.1776T>C (p.Phe592=) rs755487849 0.00003
NM_006267.5(RANBP2):c.2698-4T>C rs757813505 0.00003
NM_006267.5(RANBP2):c.2954C>T (p.Pro985Leu) rs368547122 0.00003
NM_006267.5(RANBP2):c.3945G>A (p.Ala1315=) rs748155574 0.00003
NM_006267.5(RANBP2):c.4161C>T (p.Gly1387=) rs1474575032 0.00003
NM_006267.5(RANBP2):c.4515G>A (p.Pro1505=) rs140837223 0.00003
NM_006267.5(RANBP2):c.561C>T (p.His187=) rs761758022 0.00003
NM_006267.5(RANBP2):c.6024C>T (p.Ser2008=) rs771879832 0.00003
NM_006267.5(RANBP2):c.6393G>A (p.Leu2131=) rs760911618 0.00003
NM_006267.5(RANBP2):c.7332A>G (p.Glu2444=) rs760061689 0.00003
NM_006267.5(RANBP2):c.7827C>T (p.Tyr2609=) rs371875659 0.00003
NM_006267.5(RANBP2):c.8262A>G (p.Gln2754=) rs749840401 0.00003
NM_006267.5(RANBP2):c.140+9A>T rs755428275 0.00002
NM_006267.5(RANBP2):c.1755+12A>C rs566038527 0.00002
NM_006267.5(RANBP2):c.1833A>G (p.Pro611=) rs1558904916 0.00002
NM_006267.5(RANBP2):c.1959T>C (p.Thr653=) rs755010156 0.00002
NM_006267.5(RANBP2):c.2040T>C (p.Tyr680=) rs201294188 0.00002
NM_006267.5(RANBP2):c.2056-10A>G rs539183099 0.00002
NM_006267.5(RANBP2):c.2313A>G (p.Ala771=) rs76482726 0.00002
NM_006267.5(RANBP2):c.2343T>C (p.Ser781=) rs777882945 0.00002
NM_006267.5(RANBP2):c.2511C>A (p.Ser837=) rs767864047 0.00002
NM_006267.5(RANBP2):c.288T>G (p.Leu96=) rs755002297 0.00002
NM_006267.5(RANBP2):c.3585T>C (p.Phe1195=) rs375351925 0.00002
NM_006267.5(RANBP2):c.4331C>T (p.Ala1444Val) rs150309568 0.00002
NM_006267.5(RANBP2):c.5166T>G (p.Thr1722=) rs1238106275 0.00002
NM_006267.5(RANBP2):c.6282C>T (p.Asn2094=) rs759465379 0.00002
NM_006267.5(RANBP2):c.630C>T (p.Thr210=) rs774429534 0.00002
NM_006267.5(RANBP2):c.636+16T>C rs1407354933 0.00002
NM_006267.5(RANBP2):c.7674T>C (p.Ser2558=) rs1221988004 0.00002
NM_006267.5(RANBP2):c.7923C>T (p.Thr2641=) rs750830644 0.00002
NM_006267.5(RANBP2):c.8166G>A (p.Glu2722=) rs895968968 0.00002
NM_006267.5(RANBP2):c.8385A>G (p.Glu2795=) rs774055387 0.00002
NM_006267.5(RANBP2):c.9297A>G (p.Leu3099=) rs1229672264 0.00002
NM_006267.5(RANBP2):c.9354A>G (p.Pro3118=) rs201982385 0.00002
NM_006267.5(RANBP2):c.1063+17A>G rs1267316826 0.00001
NM_006267.5(RANBP2):c.1063+8dup rs1340429121 0.00001
NM_006267.5(RANBP2):c.1065G>A (p.Gly355=) rs753909167 0.00001
NM_006267.5(RANBP2):c.1149T>C (p.Ser383=) rs767259689 0.00001
NM_006267.5(RANBP2):c.156C>T (p.Tyr52=) rs1460131690 0.00001
NM_006267.5(RANBP2):c.1632-9A>G rs949749735 0.00001
NM_006267.5(RANBP2):c.1752A>G (p.Lys584=) rs1265691982 0.00001
NM_006267.5(RANBP2):c.1756-10T>C rs1415257790 0.00001
NM_006267.5(RANBP2):c.1918-17del rs1218755922 0.00001
NM_006267.5(RANBP2):c.2056-4A>T rs372329184 0.00001
NM_006267.5(RANBP2):c.2157A>T (p.Ile719=) rs1052526699 0.00001
NM_006267.5(RANBP2):c.2244A>G (p.Ser748=) rs1488046156 0.00001
NM_006267.5(RANBP2):c.2337A>C (p.Thr779=) rs755384601 0.00001
NM_006267.5(RANBP2):c.2448A>G (p.Gln816=) rs1378498878 0.00001
NM_006267.5(RANBP2):c.2766C>T (p.His922=) rs1676869771 0.00001
NM_006267.5(RANBP2):c.2829A>G (p.Ala943=) rs372791515 0.00001
NM_006267.5(RANBP2):c.2862A>G (p.Leu954=) rs374697321 0.00001
NM_006267.5(RANBP2):c.3060A>G (p.Pro1020=) rs1312609974 0.00001
NM_006267.5(RANBP2):c.3153T>C (p.Val1051=) rs372530448 0.00001
NM_006267.5(RANBP2):c.3351G>A (p.Ser1117=) rs746610775 0.00001
NM_006267.5(RANBP2):c.3399T>G (p.Thr1133=) rs1676931793 0.00001
NM_006267.5(RANBP2):c.4026G>T (p.Leu1342=) rs1676976328 0.00001
NM_006267.5(RANBP2):c.4350A>G (p.Ser1450=) rs530138739 0.00001
NM_006267.5(RANBP2):c.4404T>C (p.Ile1468=) rs1410952858 0.00001
NM_006267.5(RANBP2):c.4929A>C (p.Ser1643=) rs569913859 0.00001
NM_006267.5(RANBP2):c.541T>C (p.Leu181=) rs939517014 0.00001
NM_006267.5(RANBP2):c.5825G>T (p.Ser1942Ile) rs201476147 0.00001
NM_006267.5(RANBP2):c.6033C>T (p.Ile2011=) rs1360566375 0.00001
NM_006267.5(RANBP2):c.615G>A (p.Ser205=) rs1223310052 0.00001
NM_006267.5(RANBP2):c.6291T>C (p.Pro2097=) rs765228926 0.00001
NM_006267.5(RANBP2):c.6955C>T (p.Leu2319=) rs759284450 0.00001
NM_006267.5(RANBP2):c.7026T>C (p.Tyr2342=) rs755317084 0.00001
NM_006267.5(RANBP2):c.7596A>G (p.Pro2532=) rs1677242055 0.00001
NM_006267.5(RANBP2):c.7602A>G (p.Ala2534=) rs759564858 0.00001
NM_006267.5(RANBP2):c.7755C>T (p.Ile2585=) rs573825128 0.00001
NM_006267.5(RANBP2):c.8021-7T>C rs1573833135 0.00001
NM_006267.5(RANBP2):c.8415A>G (p.Ser2805=) rs751209914 0.00001
NM_006267.5(RANBP2):c.8497+8_8497+10del rs1573843165 0.00001
NM_006267.5(RANBP2):c.8761-7A>G rs752737645 0.00001
NM_006267.5(RANBP2):c.9243T>C (p.Thr3081=) rs752209534 0.00001
NM_006267.5(RANBP2):c.9405A>G (p.Gly3135=) rs1553503136 0.00001
NM_006267.5(RANBP2):c.9408G>A (p.Gln3136=) rs1429024597 0.00001
NM_006267.5(RANBP2):c.9435T>C (p.Asp3145=) rs773867401 0.00001
NM_006267.5(RANBP2):c.9504T>C (p.Asn3168=) rs781044168 0.00001
NM_006267.5(RANBP2):c.1273+9T>C rs374341209
NM_006267.5(RANBP2):c.1398T>C (p.His466=) rs746894026
NM_006267.5(RANBP2):c.1632-9A>T rs949749735
NM_006267.5(RANBP2):c.1641C>T (p.Asn547=)
NM_006267.5(RANBP2):c.1656A>G (p.Arg552=)
NM_006267.5(RANBP2):c.1684C>T (p.Leu562=)
NM_006267.5(RANBP2):c.1713A>G (p.Gln571=)
NM_006267.5(RANBP2):c.1746T>C (p.Leu582=)
NM_006267.5(RANBP2):c.1755+10A>G
NM_006267.5(RANBP2):c.1755+12A>T rs566038527
NM_006267.5(RANBP2):c.1755+12dup
NM_006267.5(RANBP2):c.1755+17A>T
NM_006267.5(RANBP2):c.1755+8T>G
NM_006267.5(RANBP2):c.1756-15A>C
NM_006267.5(RANBP2):c.1756-7T>G
NM_006267.5(RANBP2):c.1770T>C (p.Asn590=) rs1573774225
NM_006267.5(RANBP2):c.1794C>T (p.Tyr598=)
NM_006267.5(RANBP2):c.1834T>C (p.Leu612=)
NM_006267.5(RANBP2):c.1881T>C (p.Asp627=) rs1676034595
NM_006267.5(RANBP2):c.1908A>G (p.Val636=)
NM_006267.5(RANBP2):c.1917+13del rs2149230750
NM_006267.5(RANBP2):c.1917+15T>A
NM_006267.5(RANBP2):c.1918-11TG[2] rs773018169
NM_006267.5(RANBP2):c.1918-12C>G rs2149232168
NM_006267.5(RANBP2):c.1918-13T>C
NM_006267.5(RANBP2):c.1918-16dup
NM_006267.5(RANBP2):c.1918-6G>T rs1265664961
NM_006267.5(RANBP2):c.1918-7T>C
NM_006267.5(RANBP2):c.1918-7del
NM_006267.5(RANBP2):c.1923A>G (p.Ser641=) rs1474061823
NM_006267.5(RANBP2):c.1929T>C (p.Ile643=) rs2149232356
NM_006267.5(RANBP2):c.1938T>C (p.Tyr646=)
NM_006267.5(RANBP2):c.1980A>C (p.Val660=)
NM_006267.5(RANBP2):c.1989T>C (p.Asn663=)
NM_006267.5(RANBP2):c.2004G>C (p.Val668=)
NM_006267.5(RANBP2):c.2016A>G (p.Glu672=)
NM_006267.5(RANBP2):c.2055+19T>G rs2149233105
NM_006267.5(RANBP2):c.2055+7A>G rs1676074250
NM_006267.5(RANBP2):c.2055+8G>A
NM_006267.5(RANBP2):c.2103T>C (p.Pro701=) rs2149234820
NM_006267.5(RANBP2):c.2148C>T (p.Asp716=) rs1573777630
NM_006267.5(RANBP2):c.2196C>T (p.Val732=) rs2149235251
NM_006267.5(RANBP2):c.2202+17T>C rs1317354269
NM_006267.5(RANBP2):c.2203-8A>G rs372713342
NM_006267.5(RANBP2):c.225C>T (p.Asn75=) rs144278795
NM_006267.5(RANBP2):c.2302T>C (p.Leu768=) rs2149240072
NM_006267.5(RANBP2):c.2379C>T (p.Tyr793=) rs1558908350
NM_006267.5(RANBP2):c.2383-13T>C rs367912988
NM_006267.5(RANBP2):c.2406A>G (p.Arg802=) rs751871178
NM_006267.5(RANBP2):c.2467-5A>C rs547917578
NM_006267.5(RANBP2):c.2508A>G (p.Ala836=) rs1384877979
NM_006267.5(RANBP2):c.2637G>A (p.Gln879=) rs1224942587
NM_006267.5(RANBP2):c.2700C>T (p.Gly900=) rs781717148
NM_006267.5(RANBP2):c.2943C>T (p.Phe981=) rs1186427284
NM_006267.5(RANBP2):c.294G>A (p.Leu98=) rs2149107628
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) rs112835359
NM_006267.5(RANBP2):c.3387T>C (p.Asp1129=) rs142454773
NM_006267.5(RANBP2):c.3537T>C (p.Pro1179=) rs2149273156
NM_006267.5(RANBP2):c.3630A>G (p.Glu1210=) rs2149273372
NM_006267.5(RANBP2):c.4047A>G (p.Ala1349=) rs2149274491
NM_006267.5(RANBP2):c.4053A>G (p.Lys1351=) rs1676978271
NM_006267.5(RANBP2):c.4086A>T (p.Ser1362=)
NM_006267.5(RANBP2):c.4207A>G (p.Asn1403Asp) rs773879572
NM_006267.5(RANBP2):c.4386A>G (p.Gly1462=) rs746426840
NM_006267.5(RANBP2):c.4482G>A (p.Gly1494=) rs2149275917
NM_006267.5(RANBP2):c.4542T>C (p.Ser1514=) rs2149276093
NM_006267.5(RANBP2):c.468A>G (p.Ser156=) rs1573715364
NM_006267.5(RANBP2):c.4752T>C (p.Phe1584=) rs1553495996
NM_006267.5(RANBP2):c.4950A>G (p.Thr1650=) rs1553496153
NM_006267.5(RANBP2):c.4998G>A (p.Glu1666=) rs1198711049
NM_006267.5(RANBP2):c.5034T>C (p.Asn1678=) rs2149277667
NM_006267.5(RANBP2):c.5088A>G (p.Gln1696=) rs753999890
NM_006267.5(RANBP2):c.5613A>T (p.Ser1871=) rs1179466757
NM_006267.5(RANBP2):c.5934A>G (p.Leu1978=) rs2149280531
NM_006267.5(RANBP2):c.6039T>C (p.Phe2013=) rs2149280892
NM_006267.5(RANBP2):c.6060C>T (p.Pro2020=) rs4012040
NM_006267.5(RANBP2):c.6163A>C (p.Arg2055=) rs1462359212
NM_006267.5(RANBP2):c.627G>A (p.Gln209=) rs1453197920
NM_006267.5(RANBP2):c.6391C>T (p.Leu2131=) rs2149281625
NM_006267.5(RANBP2):c.6613G>C (p.Gly2205Arg) rs755789696
NM_006267.5(RANBP2):c.7293G>T (p.Ser2431=) rs774092353
NM_006267.5(RANBP2):c.7303A>G (p.Ile2435Val)
NM_006267.5(RANBP2):c.7474A>G (p.Thr2492Ala) rs2693103
NM_006267.5(RANBP2):c.783-7A>G rs1455946339
NM_006267.5(RANBP2):c.7849+20_7849+25del rs746373607
NM_006267.5(RANBP2):c.7881C>G (p.Pro2627=) rs547411641
NM_006267.5(RANBP2):c.7995T>C (p.Asp2665=) rs1677522145
NM_006267.5(RANBP2):c.8020+10T>C
NM_006267.5(RANBP2):c.8020+10T>G rs374753445
NM_006267.5(RANBP2):c.8020+10_8020+11del rs768933666
NM_006267.5(RANBP2):c.8020+7C>T rs1573831757
NM_006267.5(RANBP2):c.8106T>C (p.Asn2702=) rs2149300289
NM_006267.5(RANBP2):c.8114-10G>C rs2149301373
NM_006267.5(RANBP2):c.8292+8C>A rs753695366
NM_006267.5(RANBP2):c.8293-6_8293-5del rs1305837574
NM_006267.5(RANBP2):c.8334A>G (p.Val2778=) rs758018669
NM_006267.5(RANBP2):c.8346G>A (p.Gly2782=) rs754320830
NM_006267.5(RANBP2):c.8600-6C>T rs2149329123
NM_006267.5(RANBP2):c.8700T>C (p.Ser2900=) rs750711827
NM_006267.5(RANBP2):c.8916A>C (p.Leu2972=) rs1553502610
NM_006267.5(RANBP2):c.9067A>C (p.Arg3023=) rs754606906
NM_006267.5(RANBP2):c.9228T>G (p.Pro3076=) rs2149333019
NM_006267.5(RANBP2):c.9258A>C (p.Ser3086=) rs2149333084
NM_006267.5(RANBP2):c.951A>C (p.Ala317=) rs750467478
NM_006267.5(RANBP2):c.951A>G (p.Ala317=) rs750467478
NM_006267.5(RANBP2):c.951A>T (p.Ala317=) rs750467478

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