ClinVar Miner

List of variants in gene LOC101928008, SBF2 studied for Charcot-Marie-Tooth disease type 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00051
NM_030962.4(SBF2):c.1965G>A (p.Thr655=) rs143732754 0.00039
NM_030962.4(SBF2):c.2938A>G (p.Ile980Val) rs148625171 0.00024
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154 0.00023
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_030962.4(SBF2):c.3223C>T (p.Arg1075Cys) rs750021823 0.00019
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val) rs147438385 0.00016
NM_030962.4(SBF2):c.2050C>G (p.Leu684Val) rs146987383 0.00015
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_030962.4(SBF2):c.2536+13C>A rs369035547 0.00012
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg) rs753921188 0.00010
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu) rs201964421 0.00010
NM_030962.4(SBF2):c.1907C>A (p.Pro636His) rs544091616 0.00009
NM_030962.4(SBF2):c.2085G>A (p.Pro695=) rs148241076 0.00009
NM_030962.4(SBF2):c.3111-9G>A rs200045139 0.00009
NM_030962.4(SBF2):c.2070A>G (p.Glu690=) rs201247796 0.00008
NM_030962.4(SBF2):c.2014A>G (p.Thr672Ala) rs770839510 0.00007
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
NM_030962.4(SBF2):c.3410A>G (p.Tyr1137Cys) rs370742916 0.00007
NM_030962.4(SBF2):c.3455+9G>A rs372886234 0.00007
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581 0.00006
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys) rs146868794 0.00006
NM_030962.4(SBF2):c.2451G>T (p.Arg817=) rs775803946 0.00006
NM_030962.4(SBF2):c.2598G>A (p.Pro866=) rs376372877 0.00006
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226 0.00006
NM_030962.4(SBF2):c.2536+16A>G rs200967111 0.00005
NM_030962.4(SBF2):c.2593C>A (p.Leu865Ile) rs371380984 0.00005
NM_030962.4(SBF2):c.2954A>T (p.Asp985Val) rs143883319 0.00005
NM_030962.4(SBF2):c.1929+7T>C rs777170105 0.00004
NM_030962.4(SBF2):c.2164C>T (p.Arg722Cys) rs753111342 0.00004
NM_030962.4(SBF2):c.2183G>C (p.Ser728Thr) rs751653396 0.00004
NM_030962.4(SBF2):c.2787A>T (p.Gly929=) rs777826645 0.00004
NM_030962.4(SBF2):c.2883G>C (p.Gln961His) rs768147206 0.00004
NM_030962.4(SBF2):c.2891A>G (p.Gln964Arg) rs747309148 0.00004
NM_030962.4(SBF2):c.3087G>A (p.Gln1029=) rs775337881 0.00004
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val) rs142891020 0.00004
NM_030962.4(SBF2):c.3169C>T (p.Arg1057Trp) rs536949808 0.00004
NM_030962.4(SBF2):c.3283A>G (p.Ser1095Gly) rs2942402 0.00004
NM_030962.4(SBF2):c.2160A>G (p.Gln720=) rs1247703447 0.00003
NM_030962.4(SBF2):c.2350A>G (p.Ile784Val) rs758912920 0.00003
NM_030962.4(SBF2):c.2450G>A (p.Arg817Gln) rs369653070 0.00003
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met) rs746363004 0.00003
NM_030962.4(SBF2):c.2611-18A>G rs374144072 0.00003
NM_030962.4(SBF2):c.2789C>T (p.Thr930Ile) rs755578344 0.00003
NM_030962.4(SBF2):c.2807-3C>T rs375252298 0.00003
NM_030962.4(SBF2):c.3170G>A (p.Arg1057Gln) rs138612196 0.00003
NM_030962.4(SBF2):c.3376A>T (p.Ile1126Leu) rs747669195 0.00003
NM_030962.4(SBF2):c.1861-7C>T rs199559894 0.00002
NM_030962.4(SBF2):c.1971A>G (p.Val657=) rs368639697 0.00002
NM_030962.4(SBF2):c.2078A>G (p.His693Arg) rs1269738427 0.00002
NM_030962.4(SBF2):c.2122T>C (p.Tyr708His) rs368259453 0.00002
NM_030962.4(SBF2):c.2304C>T (p.Leu768=) rs758341369 0.00002
NM_030962.4(SBF2):c.2397A>G (p.Thr799=) rs759550730 0.00002
NM_030962.4(SBF2):c.2449C>T (p.Arg817Trp) rs747325449 0.00002
NM_030962.4(SBF2):c.2481T>C (p.Cys827=) rs777916307 0.00002
NM_030962.4(SBF2):c.2597C>T (p.Pro866Leu) rs143887793 0.00002
NM_030962.4(SBF2):c.2602A>G (p.Ile868Val) rs750641739 0.00002
NM_030962.4(SBF2):c.2806+10G>A rs761936469 0.00002
NM_030962.4(SBF2):c.2807-8A>G rs762580844 0.00002
NM_030962.4(SBF2):c.2828G>A (p.Arg943Gln) rs753298285 0.00002
NM_030962.4(SBF2):c.2935-15C>G rs967262284 0.00002
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys) rs770723203 0.00002
NM_030962.4(SBF2):c.3230G>C (p.Gly1077Ala) rs775746690 0.00002
NM_030962.4(SBF2):c.3256+15G>C rs774896771 0.00002
NM_030962.4(SBF2):c.3313A>G (p.Thr1105Ala) rs1217278816 0.00002
NM_030962.4(SBF2):c.3353A>T (p.Tyr1118Phe) rs1206899890 0.00002
NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter) rs1433023728 0.00001
NM_030962.4(SBF2):c.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr) rs775198025 0.00001
NM_030962.4(SBF2):c.1902A>T (p.Leu634Phe) rs1861220165 0.00001
NM_030962.4(SBF2):c.1964C>T (p.Thr655Met) rs777190196 0.00001
NM_030962.4(SBF2):c.2024A>G (p.Asn675Ser) rs375407366 0.00001
NM_030962.4(SBF2):c.2100+7G>A rs370918433 0.00001
NM_030962.4(SBF2):c.2101G>A (p.Asp701Asn) rs746473762 0.00001
NM_030962.4(SBF2):c.2113G>A (p.Asp705Asn) rs1388585918 0.00001
NM_030962.4(SBF2):c.2155G>A (p.Glu719Lys) rs149162783 0.00001
NM_030962.4(SBF2):c.2165G>A (p.Arg722His) rs768079951 0.00001
NM_030962.4(SBF2):c.2181G>A (p.Leu727=) rs1376193402 0.00001
NM_030962.4(SBF2):c.2254A>G (p.Asn752Asp) rs775455068 0.00001
NM_030962.4(SBF2):c.2259C>T (p.Leu753=) rs771467991 0.00001
NM_030962.4(SBF2):c.2269C>T (p.Leu757=) rs370321615 0.00001
NM_030962.4(SBF2):c.2283C>T (p.Leu761=) rs781716972 0.00001
NM_030962.4(SBF2):c.2284G>A (p.Asp762Asn) rs929805760 0.00001
NM_030962.4(SBF2):c.2318C>T (p.Ala773Val) rs750527598 0.00001
NM_030962.4(SBF2):c.2338G>A (p.Gly780Arg) rs775404093 0.00001
NM_030962.4(SBF2):c.2388C>G (p.Ser796Arg) rs1857121600 0.00001
NM_030962.4(SBF2):c.2394T>C (p.Asp798=) rs767309728 0.00001
NM_030962.4(SBF2):c.2431A>G (p.Ile811Val) rs764765082 0.00001
NM_030962.4(SBF2):c.2447T>C (p.Val816Ala) rs982821887 0.00001
NM_030962.4(SBF2):c.2492G>A (p.Gly831Glu) rs770201190 0.00001
NM_030962.4(SBF2):c.2516G>C (p.Ser839Thr) rs1060500002 0.00001
NM_030962.4(SBF2):c.2523T>C (p.His841=) rs143617524 0.00001
NM_030962.4(SBF2):c.2546C>T (p.Ala849Val) rs751319241 0.00001
NM_030962.4(SBF2):c.2579G>A (p.Arg860Gln) rs1210393129 0.00001
NM_030962.4(SBF2):c.2610+11A>G rs375912268 0.00001
NM_030962.4(SBF2):c.2619T>C (p.Ile873=) rs1168090388 0.00001
NM_030962.4(SBF2):c.2662G>A (p.Gly888Ser) rs369589966 0.00001
NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter) rs1413469900 0.00001
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln) rs755699993 0.00001
NM_030962.4(SBF2):c.2681A>G (p.Asp894Gly) rs552340604 0.00001
NM_030962.4(SBF2):c.2704A>G (p.Thr902Ala) rs376463609 0.00001
NM_030962.4(SBF2):c.2716C>A (p.Leu906Ile) rs760903950 0.00001
NM_030962.4(SBF2):c.2776C>A (p.Leu926Ile) rs1193714532 0.00001
NM_030962.4(SBF2):c.2804T>C (p.Leu935Ser) rs751248866 0.00001
NM_030962.4(SBF2):c.2806+20C>T rs760777294 0.00001
NM_030962.4(SBF2):c.2807-10C>G rs1392834610 0.00001
NM_030962.4(SBF2):c.2819C>T (p.Thr940Ile) rs756720332 0.00001
NM_030962.4(SBF2):c.2872A>G (p.Met958Val) rs901770002 0.00001
NM_030962.4(SBF2):c.2882A>G (p.Gln961Arg) rs776603587 0.00001
NM_030962.4(SBF2):c.2934+7A>C rs1475155503 0.00001
NM_030962.4(SBF2):c.2935-3T>A rs202116086 0.00001
NM_030962.4(SBF2):c.2963T>G (p.Val988Gly) rs778766567 0.00001
NM_030962.4(SBF2):c.3011G>A (p.Arg1004His) rs1157037356 0.00001
NM_030962.4(SBF2):c.3040G>A (p.Ala1014Thr) rs1404127728 0.00001
NM_030962.4(SBF2):c.3082A>G (p.Lys1028Glu) rs929108873 0.00001
NM_030962.4(SBF2):c.3086A>G (p.Gln1029Arg) rs1297679145 0.00001
NM_030962.4(SBF2):c.3110+5G>T rs898995159 0.00001
NM_030962.4(SBF2):c.3155A>G (p.Lys1052Arg) rs556594133 0.00001
NM_030962.4(SBF2):c.3165T>C (p.Ile1055=) rs1478321308 0.00001
NM_030962.4(SBF2):c.3189G>A (p.Lys1063=) rs889481914 0.00001
NM_030962.4(SBF2):c.3203T>G (p.Ile1068Ser) rs765970008 0.00001
NM_030962.4(SBF2):c.3257-10A>T rs1348371983 0.00001
NM_030962.4(SBF2):c.3277C>T (p.Pro1093Ser) rs953467120 0.00001
NM_030962.4(SBF2):c.3278C>T (p.Pro1093Leu) rs762973514 0.00001
NM_030962.4(SBF2):c.3304G>A (p.Glu1102Lys) rs778262784 0.00001
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val) rs753427715 0.00001
NM_030962.4(SBF2):c.3436A>T (p.Met1146Leu) rs377277274 0.00001
NM_030962.4(SBF2):c.3445C>T (p.Leu1149Phe) rs766709811 0.00001
NM_030962.4(SBF2):c.3451C>T (p.Arg1151Trp) rs140550985 0.00001
NM_030962.4(SBF2):c.3452G>A (p.Arg1151Gln) rs750893713 0.00001
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.4(SBF2):c.1861-9T>C rs2134134508
NM_030962.4(SBF2):c.1862A>G (p.Asp621Gly) rs765204789
NM_030962.4(SBF2):c.1892C>A (p.Ala631Asp) rs376057124
NM_030962.4(SBF2):c.1893C>G (p.Ala631=) rs760154688
NM_030962.4(SBF2):c.1906C>A (p.Pro636Thr)
NM_030962.4(SBF2):c.1911G>C (p.Leu637Phe) rs1373091395
NM_030962.4(SBF2):c.1925A>G (p.Tyr642Cys)
NM_030962.4(SBF2):c.1928G>A (p.Arg643Lys)
NM_030962.4(SBF2):c.1929+13G>C
NM_030962.4(SBF2):c.1929+4A>C
NM_030962.4(SBF2):c.1929+4A>G
NM_030962.4(SBF2):c.1930-10G>A rs765561519
NM_030962.4(SBF2):c.1930-10G>T rs765561519
NM_030962.4(SBF2):c.1930-6T>G
NM_030962.4(SBF2):c.1930-9T>C
NM_030962.4(SBF2):c.1930-9T>G rs1857476118
NM_030962.4(SBF2):c.1931A>C (p.Lys644Thr) rs1857475272
NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.4(SBF2):c.1953G>C (p.Gln651His) rs2134007186
NM_030962.4(SBF2):c.1958C>T (p.Ala653Val) rs2134007178
NM_030962.4(SBF2):c.1997A>G (p.Gln666Arg) rs2134006965
NM_030962.4(SBF2):c.2010G>A (p.Glu670=)
NM_030962.4(SBF2):c.2016C>G (p.Thr672=)
NM_030962.4(SBF2):c.2023A>C (p.Asn675His)
NM_030962.4(SBF2):c.2031G>A (p.Val677=)
NM_030962.4(SBF2):c.2041G>A (p.Val681Ile)
NM_030962.4(SBF2):c.2058C>G (p.Leu686=)
NM_030962.4(SBF2):c.2058C>T (p.Leu686=) rs895655461
NM_030962.4(SBF2):c.2079T>C (p.His693=)
NM_030962.4(SBF2):c.2083C>G (p.Pro695Ala)
NM_030962.4(SBF2):c.2100+17_2100+19dup rs751432798
NM_030962.4(SBF2):c.2101-14G>T
NM_030962.4(SBF2):c.2102A>G (p.Asp701Gly) rs1590235062
NM_030962.4(SBF2):c.2112T>A (p.Pro704=) rs1857340727
NM_030962.4(SBF2):c.2128_2130del (p.Glu710del)
NM_030962.4(SBF2):c.2140A>G (p.Met714Val)
NM_030962.4(SBF2):c.2149G>A (p.Ala717Thr)
NM_030962.4(SBF2):c.2150C>T (p.Ala717Val) rs1857337701
NM_030962.4(SBF2):c.2161C>T (p.Leu721=) rs2134001499
NM_030962.4(SBF2):c.2178C>A (p.Thr726=) rs1590234812
NM_030962.4(SBF2):c.2203C>G (p.Leu735Val)
NM_030962.4(SBF2):c.2205A>G (p.Leu735=)
NM_030962.4(SBF2):c.2206G>A (p.Val736Met)
NM_030962.4(SBF2):c.2220A>G (p.Glu740=)
NM_030962.4(SBF2):c.2244T>C (p.Ile748=)
NM_030962.4(SBF2):c.2257C>T (p.Leu753Phe) rs1857329536
NM_030962.4(SBF2):c.2260A>T (p.Met754Leu) rs745452169
NM_030962.4(SBF2):c.2287dup (p.Thr763fs)
NM_030962.4(SBF2):c.2289A>G (p.Thr763=)
NM_030962.4(SBF2):c.2293A>G (p.Lys765Glu)
NM_030962.4(SBF2):c.2325T>C (p.Gly775=)
NM_030962.4(SBF2):c.2325T>G (p.Gly775=) rs2134000781
NM_030962.4(SBF2):c.2329T>G (p.Trp777Gly) rs1321841784
NM_030962.4(SBF2):c.2358A>C (p.Thr786=)
NM_030962.4(SBF2):c.2363+11G>A rs2134000617
NM_030962.4(SBF2):c.2363+15A>G
NM_030962.4(SBF2):c.2363+20C>A
NM_030962.4(SBF2):c.2364-7G>T
NM_030962.4(SBF2):c.2381C>T (p.Ala794Val) rs1857121933
NM_030962.4(SBF2):c.2445T>C (p.Val815=)
NM_030962.4(SBF2):c.2448G>A (p.Val816=)
NM_030962.4(SBF2):c.2472C>T (p.Asp824=)
NM_030962.4(SBF2):c.2482A>G (p.Thr828Ala)
NM_030962.4(SBF2):c.2492G>C (p.Gly831Ala)
NM_030962.4(SBF2):c.2499T>G (p.Thr833=) rs1236236536
NM_030962.4(SBF2):c.2513A>G (p.Lys838Arg)
NM_030962.4(SBF2):c.2531T>A (p.Ile844Lys)
NM_030962.4(SBF2):c.2536+14A>G
NM_030962.4(SBF2):c.2536+18A>C
NM_030962.4(SBF2):c.2536+1G>A rs1060500001
NM_030962.4(SBF2):c.2537-10C>G
NM_030962.4(SBF2):c.2537-11A>G
NM_030962.4(SBF2):c.2537-4del rs1252682513
NM_030962.4(SBF2):c.2574A>G (p.Val858=)
NM_030962.4(SBF2):c.2578C>A (p.Arg860=) rs764814296
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr) rs1228676321
NM_030962.4(SBF2):c.2599C>T (p.Pro867Ser) rs1857042661
NM_030962.4(SBF2):c.2601T>C (p.Pro867=)
NM_030962.4(SBF2):c.2610+10G>A
NM_030962.4(SBF2):c.2610+12C>T
NM_030962.4(SBF2):c.2610+16A>G
NM_030962.4(SBF2):c.2610+19C>T
NM_030962.4(SBF2):c.2610G>A (p.Lys870=)
NM_030962.4(SBF2):c.2611-16C>A
NM_030962.4(SBF2):c.2611-18A>C
NM_030962.4(SBF2):c.2611-18A>T
NM_030962.4(SBF2):c.2611-35AATC[3]
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.2611-5G>A
NM_030962.4(SBF2):c.2611-5G>T rs1590218785
NM_030962.4(SBF2):c.2611-9T>C
NM_030962.4(SBF2):c.2612C>G (p.Pro871Arg) rs1856823248
NM_030962.4(SBF2):c.2627C>G (p.Pro876Arg) rs912881512
NM_030962.4(SBF2):c.2653G>T (p.Val885Phe) rs1856820562
NM_030962.4(SBF2):c.2655_2658del (p.Cys886fs)
NM_030962.4(SBF2):c.2663G>T (p.Gly888Val) rs777117399
NM_030962.4(SBF2):c.2685T>C (p.Pro895=) rs1409235455
NM_030962.4(SBF2):c.2689G>A (p.Gly897Arg) rs1554924568
NM_030962.4(SBF2):c.2709A>C (p.Gly903=) rs140152705
NM_030962.4(SBF2):c.2710G>T (p.Gly904Cys) rs1856816602
NM_030962.4(SBF2):c.2717T>C (p.Leu906Pro) rs1856816042
NM_030962.4(SBF2):c.2722G>A (p.Gly908Ser) rs1856815904
NM_030962.4(SBF2):c.2742A>G (p.Ala914=) rs2133981778
NM_030962.4(SBF2):c.2743G>A (p.Glu915Lys)
NM_030962.4(SBF2):c.2743G>C (p.Glu915Gln)
NM_030962.4(SBF2):c.2783G>T (p.Arg928Ile)
NM_030962.4(SBF2):c.2789C>A (p.Thr930Lys) rs755578344
NM_030962.4(SBF2):c.2795A>G (p.His932Arg) rs1554924467
NM_030962.4(SBF2):c.2798A>G (p.Asp933Gly)
NM_030962.4(SBF2):c.2806+18A>G
NM_030962.4(SBF2):c.2806+8T>G
NM_030962.4(SBF2):c.2807-11T>G
NM_030962.4(SBF2):c.2813A>G (p.Glu938Gly)
NM_030962.4(SBF2):c.2827C>T (p.Arg943Trp) rs1324654662
NM_030962.4(SBF2):c.2838C>T (p.Pro946=)
NM_030962.4(SBF2):c.2839A>G (p.Ile947Val)
NM_030962.4(SBF2):c.2844C>G (p.Ala948=) rs762600096
NM_030962.4(SBF2):c.2844C>T (p.Ala948=) rs762600096
NM_030962.4(SBF2):c.2848A>C (p.Ile950Leu)
NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu) rs1856598871
NM_030962.4(SBF2):c.2867T>C (p.Ile956Thr) rs2133973910
NM_030962.4(SBF2):c.2886A>C (p.Leu962=)
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser) rs1008248276
NM_030962.4(SBF2):c.2897_2898delinsAT (p.Met966Asn) rs2133973790
NM_030962.4(SBF2):c.2904A>G (p.Glu968=)
NM_030962.4(SBF2):c.2907A>G (p.Gly969=) rs1057523299
NM_030962.4(SBF2):c.2908C>T (p.Leu970=) rs1370817659
NM_030962.4(SBF2):c.2927C>T (p.Ser976Phe) rs1564909729
NM_030962.4(SBF2):c.2934+11dup
NM_030962.4(SBF2):c.2934+15A>G rs1461263560
NM_030962.4(SBF2):c.2934+16G>A
NM_030962.4(SBF2):c.2934+17C>G
NM_030962.4(SBF2):c.2934+18del rs751526911
NM_030962.4(SBF2):c.2935-12T>C
NM_030962.4(SBF2):c.2935-15C>T
NM_030962.4(SBF2):c.2941A>G (p.Lys981Glu)
NM_030962.4(SBF2):c.2948C>A (p.Ala983Glu)
NM_030962.4(SBF2):c.2975TAG[1] (p.Val993del)
NM_030962.4(SBF2):c.3000G>A (p.Leu1000=) rs1564908294
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.4(SBF2):c.3010C>T (p.Arg1004Cys) rs1008990516
NM_030962.4(SBF2):c.3015T>C (p.Tyr1005=) rs1554922354
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser) rs886048781
NM_030962.4(SBF2):c.3021G>A (p.Gln1007=)
NM_030962.4(SBF2):c.3030C>T (p.Phe1010=) rs2133969868
NM_030962.4(SBF2):c.3033T>C (p.Ser1011=)
NM_030962.4(SBF2):c.3057A>G (p.Gln1019=)
NM_030962.4(SBF2):c.3084A>C (p.Lys1028Asn)
NM_030962.4(SBF2):c.3087G>T (p.Gln1029His)
NM_030962.4(SBF2):c.3093A>G (p.Glu1031=)
NM_030962.4(SBF2):c.3098A>G (p.Asn1033Ser) rs1856485648
NM_030962.4(SBF2):c.3099C>T (p.Asn1033=) rs139437755
NM_030962.4(SBF2):c.3104C>A (p.Ser1035Tyr) rs1856484914
NM_030962.4(SBF2):c.3110+10_3110+13del
NM_030962.4(SBF2):c.3110+14C>A
NM_030962.4(SBF2):c.3110+2_3110+4delinsGAG rs1856483925
NM_030962.4(SBF2):c.3110+4A>G
NM_030962.4(SBF2):c.3110G>C (p.Arg1037Pro) rs748477865
NM_030962.4(SBF2):c.3111-11A>C
NM_030962.4(SBF2):c.3111-3T>C rs2133961719
NM_030962.4(SBF2):c.3111-7C>G rs1856254310
NM_030962.4(SBF2):c.3111-7C>T
NM_030962.4(SBF2):c.3115T>G (p.Phe1039Val)
NM_030962.4(SBF2):c.3125C>T (p.Thr1042Ile) rs1856252791
NM_030962.4(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.4(SBF2):c.3142A>G (p.Lys1048Glu)
NM_030962.4(SBF2):c.3153G>A (p.Gly1051=)
NM_030962.4(SBF2):c.3167G>C (p.Gly1056Ala)
NM_030962.4(SBF2):c.3194C>T (p.Thr1065Ile) rs2133961495
NM_030962.4(SBF2):c.3198G>T (p.Gly1066=) rs150130142
NM_030962.4(SBF2):c.3200C>A (p.Thr1067Lys)
NM_030962.4(SBF2):c.3214A>G (p.Arg1072Gly)
NM_030962.4(SBF2):c.3226C>G (p.Pro1076Ala)
NM_030962.4(SBF2):c.3229G>A (p.Gly1077Arg) rs761048786
NM_030962.4(SBF2):c.3231A>G (p.Gly1077=) rs199985349
NM_030962.4(SBF2):c.3250G>A (p.Val1084Ile) rs1331366931
NM_030962.4(SBF2):c.3256+12C>T
NM_030962.4(SBF2):c.3256+8A>C rs1856241835
NM_030962.4(SBF2):c.3257-10A>G rs1348371983
NM_030962.4(SBF2):c.3257-16_3257-15del
NM_030962.4(SBF2):c.3257-18C>G
NM_030962.4(SBF2):c.3257-1G>A
NM_030962.4(SBF2):c.3257-69_3282del rs1855973417
NM_030962.4(SBF2):c.3257-8C>A rs1855976609
NM_030962.4(SBF2):c.3257-9C>T
NM_030962.4(SBF2):c.3261A>C (p.Ser1087=)
NM_030962.4(SBF2):c.3278C>G (p.Pro1093Arg) rs762973514
NM_030962.4(SBF2):c.3279C>T (p.Pro1093=)
NM_030962.4(SBF2):c.3288C>T (p.Thr1096=) rs2942403
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.4(SBF2):c.3292C>T (p.Leu1098=) rs117957652
NM_030962.4(SBF2):c.3298G>A (p.Ala1100Thr) rs1855971560
NM_030962.4(SBF2):c.3322C>G (p.Gln1108Glu) rs1855969532
NM_030962.4(SBF2):c.3329T>C (p.Val1110Ala)
NM_030962.4(SBF2):c.3336del (p.Ala1113fs)
NM_030962.4(SBF2):c.3340T>G (p.Cys1114Gly)
NM_030962.4(SBF2):c.3357G>A (p.Gln1119=)
NM_030962.4(SBF2):c.3376A>G (p.Ile1126Val) rs747669195
NM_030962.4(SBF2):c.3379A>T (p.Ser1127Cys) rs1167884517
NM_030962.4(SBF2):c.3382G>A (p.Gly1128Ser) rs1474699941
NM_030962.4(SBF2):c.3392C>A (p.Ser1131Tyr)
NM_030962.4(SBF2):c.3395G>A (p.Arg1132His)
NM_030962.4(SBF2):c.3428C>T (p.Ser1143Phe) rs2133952172
NM_030962.4(SBF2):c.3450C>T (p.Cys1150=) rs377608130
NM_030962.4(SBF2):c.3455+20C>T rs760955204

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