ClinVar Miner

List of variants in gene MIB1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_020774.4(MIB1):c.1829+131T>A rs8098807 0.96525
NM_020774.4(MIB1):c.2050-89del rs3216119 0.83546
NM_020774.4(MIB1):c.2393+10A>G rs11877131 0.09299
NM_020774.4(MIB1):c.1963-89T>C rs2276157 0.09179
NM_020774.4(MIB1):c.*34A>C rs76056004 0.08933
NM_020774.4(MIB1):c.1372-207T>A rs11083356 0.08442
NM_020774.4(MIB1):c.1677+182G>A rs2959512 0.07195
NM_020774.4(MIB1):c.230-203G>C rs1941972 0.03788
NM_020774.4(MIB1):c.1677+90A>T rs2959513 0.03784
NM_020774.4(MIB1):c.703+71T>G rs3017038 0.03780
NM_020774.4(MIB1):c.401+28C>T rs3017048 0.03458
NM_020774.4(MIB1):c.230-29A>C rs3017047 0.03454
NM_020774.4(MIB1):c.1962+221C>T rs45623738 0.03223
NM_020774.4(MIB1):c.1678-210C>T rs45508892 0.03148
NM_020774.4(MIB1):c.703+110G>C rs45552034 0.02325
NM_020774.4(MIB1):c.2779+299T>C rs73430120 0.02070
NM_020774.4(MIB1):c.1092+172G>A rs114789849 0.01904
NM_020774.4(MIB1):c.2212-269C>T rs16947345 0.01903
NM_020774.4(MIB1):c.1678-138G>A rs28729513 0.01818
NM_020774.4(MIB1):c.1677+70A>G rs9951204 0.01759
NM_020774.4(MIB1):c.2880+335C>T rs9957819 0.01755
NM_020774.4(MIB1):c.230-183C>T rs45448301 0.01588
NM_020774.4(MIB1):c.2587-68T>C rs116304397 0.01415
NM_020774.4(MIB1):c.1092+121C>T rs78582272 0.01317
NM_020774.4(MIB1):c.2881-200del rs879363278 0.01289
NM_020774.4(MIB1):c.1479+316A>G rs150534168 0.01109
NM_020774.4(MIB1):c.1238-118_1238-117del rs45524935 0.01053
NM_020774.4(MIB1):c.1962+307T>A rs147729302 0.00946
NM_020774.4(MIB1):c.1238-309T>A rs11875884 0.00822
NM_020774.4(MIB1):c.1962+17A>G rs139079482 0.00792
NM_020774.4(MIB1):c.1479+18A>G rs12605999 0.00637
NM_020774.4(MIB1):c.229+299T>G rs117885009 0.00572
NM_020774.4(MIB1):c.229+300C>A rs2290606 0.00572
NM_020774.4(MIB1):c.1092+254A>C rs147938931 0.00548
NM_020774.4(MIB1):c.2212-234A>G rs3765625 0.00429
NM_020774.4(MIB1):c.402-29A>C rs72886651 0.00365
NM_020774.4(MIB1):c.704-129A>G rs45586238 0.00359
NM_020774.4(MIB1):c.1480-252C>G rs114804438 0.00335
NM_020774.4(MIB1):c.2393+72C>T rs530934372 0.00335
NM_020774.4(MIB1):c.2666-180A>G rs192172380 0.00302
NM_020774.4(MIB1):c.1829+158T>C rs186613061 0.00258
NM_020774.4(MIB1):c.229+229C>T rs189399814 0.00257
NM_020774.4(MIB1):c.704-27T>A rs185715973 0.00231
NM_020774.4(MIB1):c.843A>T (p.Thr281=) rs137957940 0.00231
NM_020774.4(MIB1):c.2666-57G>A rs143519030 0.00179
NM_020774.4(MIB1):c.1963-6G>A rs186680702 0.00108
NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val) rs150652745 0.00099
NM_020774.4(MIB1):c.603T>G (p.Ala201=) rs35738763 0.00094
NM_020774.4(MIB1):c.229+14A>G rs372811462 0.00087
NM_020774.4(MIB1):c.2337C>T (p.Leu779=) rs146430244 0.00037
NM_020774.4(MIB1):c.736T>C (p.Leu246=) rs188600853 0.00036
NM_020774.4(MIB1):c.1435A>G (p.Ile479Val) rs147461251 0.00035
NM_020774.4(MIB1):c.2779+8G>A rs148003129 0.00034
NM_020774.4(MIB1):c.60C>T (p.Arg20=) rs147910898 0.00029
NM_020774.4(MIB1):c.2411G>A (p.Arg804Gln) rs200809199 0.00026
NM_020774.4(MIB1):c.2445C>G (p.Thr815=) rs150116970 0.00025
NM_020774.4(MIB1):c.1470C>T (p.Val490=) rs141701856 0.00023
NM_020774.4(MIB1):c.615C>T (p.Tyr205=) rs139009046 0.00022
NM_020774.4(MIB1):c.105T>C (p.His35=) rs372098137 0.00021
NM_020774.4(MIB1):c.2121A>G (p.Leu707=) rs145867120 0.00021
NM_020774.4(MIB1):c.1092+3A>G rs372212766 0.00016
NM_020774.4(MIB1):c.2050-15A>C rs373738054 0.00016
NM_020774.4(MIB1):c.2746G>A (p.Gly916Arg) rs147206277 0.00016
NM_020774.4(MIB1):c.1295A>G (p.Asn432Ser) rs759225220 0.00014
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_020774.4(MIB1):c.1771A>T (p.Ile591Phe) rs149201924 0.00012
NM_020774.4(MIB1):c.1545A>T (p.Val515=) rs150010090 0.00011
NM_020774.4(MIB1):c.2511T>C (p.Ile837=) rs146979518 0.00011
NM_020774.4(MIB1):c.1111C>T (p.Arg371Ter) rs141236852 0.00010
NM_020774.4(MIB1):c.636+7A>C rs765948951 0.00010
NM_020774.4(MIB1):c.1093-9T>C rs762889843 0.00009
NM_020774.4(MIB1):c.1372-11A>T rs773264935 0.00009
NM_020774.4(MIB1):c.2026C>T (p.Arg676Ter) rs200545301 0.00009
NM_020774.4(MIB1):c.2716C>T (p.Arg906Ter) rs201146927 0.00009
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_020774.4(MIB1):c.597T>C (p.Asn199=) rs1323108897 0.00006
NM_020774.4(MIB1):c.952C>T (p.Arg318Ter) rs142475589 0.00006
NM_020774.4(MIB1):c.1039C>T (p.Arg347Ter) rs376597435 0.00004
NM_020774.4(MIB1):c.1355A>C (p.Lys452Thr) rs752947479 0.00004
NM_020774.4(MIB1):c.1548A>G (p.Leu516=) rs745431396 0.00004
NM_020774.4(MIB1):c.2325G>A (p.Ser775=) rs781491471 0.00004
NM_020774.4(MIB1):c.442G>T (p.Ala148Ser) rs369261422 0.00004
NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter) rs752243957 0.00003
NM_020774.4(MIB1):c.2650_2651del (p.Met884fs) rs765387378 0.00003
NM_020774.4(MIB1):c.388C>T (p.Pro130Ser) rs998773897 0.00003
NM_020774.4(MIB1):c.908+11T>C rs747807993 0.00003
NM_020774.4(MIB1):c.2458A>G (p.Met820Val) rs574146329 0.00002
NM_020774.4(MIB1):c.756A>C (p.Val252=) rs192282083 0.00002
NM_020774.4(MIB1):c.1245C>G (p.Leu415=) rs768457898 0.00001
NM_020774.4(MIB1):c.127G>T (p.Glu43Ter) rs777854951 0.00001
NM_020774.4(MIB1):c.1417C>T (p.Gln473Ter) rs1386314249 0.00001
NM_020774.4(MIB1):c.1786G>T (p.Gly596Ter) rs1555694075 0.00001
NM_020774.4(MIB1):c.1848A>G (p.Leu616=) rs745924072 0.00001
NM_020774.4(MIB1):c.2037C>T (p.Thr679=) rs1232246381 0.00001
NM_020774.4(MIB1):c.228C>G (p.Thr76=) rs757518044 0.00001
NM_020774.4(MIB1):c.2307A>G (p.Arg769=) rs374946957 0.00001
NM_020774.4(MIB1):c.2580G>A (p.Arg860=) rs762343314 0.00001
NM_020774.4(MIB1):c.2653T>G (p.Cys885Gly) rs1286211902 0.00001
NM_020774.4(MIB1):c.434A>G (p.Lys145Arg) rs1243877213 0.00001
NM_020774.4(MIB1):c.768C>T (p.Leu256=) rs140792256 0.00001
NM_020774.4(MIB1):c.933C>T (p.Leu311=) rs888626600 0.00001
NM_020774.4(MIB1):c.1066G>A (p.Gly356Arg)
NM_020774.4(MIB1):c.1108G>A (p.Gly370Ser) rs1057520754
NM_020774.4(MIB1):c.1226A>G (p.Asn409Ser)
NM_020774.4(MIB1):c.1235G>A (p.Gly412Asp)
NM_020774.4(MIB1):c.1237+17_1237+18del rs1231186535
NM_020774.4(MIB1):c.1322A>G (p.Asn441Ser) rs730880135
NM_020774.4(MIB1):c.1371+283del rs200959163
NM_020774.4(MIB1):c.1372-10A>G
NM_020774.4(MIB1):c.1450T>C (p.Leu484=) rs1555692874
NM_020774.4(MIB1):c.1589G>A (p.Arg530Gln)
NM_020774.4(MIB1):c.1593_1596del (p.Gln531fs) rs2146474858
NM_020774.4(MIB1):c.1677+125G>A rs138450470
NM_020774.4(MIB1):c.1678-10A>T rs1555694067
NM_020774.4(MIB1):c.1678-18A>T rs1555694061
NM_020774.4(MIB1):c.1709C>T (p.Ala570Val)
NM_020774.4(MIB1):c.1830-162del rs371002717
NM_020774.4(MIB1):c.1952T>A (p.Leu651Ter) rs201349172
NM_020774.4(MIB1):c.1967A>C (p.Asn656Thr) rs369313882
NM_020774.4(MIB1):c.1982T>G (p.Ile661Ser) rs2146505212
NM_020774.4(MIB1):c.2140C>T (p.Gln714Ter) rs1555696015
NM_020774.4(MIB1):c.2234del (p.Gln745fs) rs1463825087
NM_020774.4(MIB1):c.2235G>T (p.Gln745His) rs1057518310
NM_020774.4(MIB1):c.2244G>A (p.Glu748=) rs1555696198
NM_020774.4(MIB1):c.229+3A>T
NM_020774.4(MIB1):c.230-6T>C rs1555689079
NM_020774.4(MIB1):c.2309A>G (p.Asn770Ser)
NM_020774.4(MIB1):c.2318del (p.Gly773fs) rs1555696210
NM_020774.4(MIB1):c.2322del (p.Gln774fs) rs2146508957
NM_020774.4(MIB1):c.2416C>T (p.Pro806Ser)
NM_020774.4(MIB1):c.2587-12_2587-11del
NM_020774.4(MIB1):c.2635C>T (p.Gln879Ter) rs1555696617
NM_020774.4(MIB1):c.265C>T (p.Arg89Cys) rs778947880
NM_020774.4(MIB1):c.2665+4A>G rs2042196777
NM_020774.4(MIB1):c.2666-11_2666-10delinsAG
NM_020774.4(MIB1):c.2749A>T (p.Lys917Ter) rs1019483000
NM_020774.4(MIB1):c.2802A>G (p.Leu934=) rs754841638
NM_020774.4(MIB1):c.2881-1_2883del rs1555697356
NM_020774.4(MIB1):c.2888_2889delinsTT (p.Cys963Phe)
NM_020774.4(MIB1):c.2905C>T (p.Arg969Cys) rs749620047
NM_020774.4(MIB1):c.2963G>T (p.Arg988Leu) rs775477290
NM_020774.4(MIB1):c.2986dup (p.Arg996fs) rs2146527210
NM_020774.4(MIB1):c.407del (p.Leu136fs) rs770988700
NM_020774.4(MIB1):c.435G>A (p.Lys145=) rs1598601116
NM_020774.4(MIB1):c.448G>T (p.Gly150Ter) rs1555689348
NM_020774.4(MIB1):c.696T>G (p.Pro232=) rs1555690373
NM_020774.4(MIB1):c.704-33del rs149227017
NM_020774.4(MIB1):c.705T>C (p.Gly235=) rs755288537
NM_020774.4(MIB1):c.856T>C (p.Cys286Arg)
NM_020774.4(MIB1):c.908+177GT[12] rs67233506
NM_020774.4(MIB1):c.908+177GT[13] rs67233506
NM_020774.4(MIB1):c.908+177GT[14] rs67233506
NM_020774.4(MIB1):c.908+177GT[16] rs67233506
NM_020774.4(MIB1):c.908+177GT[17] rs67233506
NM_020774.4(MIB1):c.909-180dup rs373544864
NM_020774.4(MIB1):c.912del (p.Arg303_Trp304insTer)
NM_020774.4(MIB1):c.939dup (p.Ala314fs) rs1555691689

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