ClinVar Miner

List of variants in gene MEGF8 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 248
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HGVS dbSNP gnomAD frequency
NM_001271938.2(MEGF8):c.1933+27A>G rs874002 0.73512
NM_001271938.2(MEGF8):c.7136+42A>G rs899329468 0.20298
NM_001271938.2(MEGF8):c.5720+125G>A rs73033437 0.15573
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_001271938.2(MEGF8):c.7270-277C>T rs11879826 0.12734
NM_001271938.2(MEGF8):c.2154G>A (p.Val718=) rs1676211 0.09328
NM_001271938.2(MEGF8):c.2737-201T>C rs1206028 0.09131
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu) rs1206038 0.08528
NM_001271938.2(MEGF8):c.4830+160G>A rs1206041 0.08194
NM_001271938.2(MEGF8):c.5011+116A>G rs1206040 0.08192
NM_001271938.2(MEGF8):c.3550+166A>G rs1206027 0.08184
NM_001271938.2(MEGF8):c.1934-7T>C rs1206044 0.08176
NM_001271938.2(MEGF8):c.2499+150T>G rs1206029 0.06524
NM_001271938.2(MEGF8):c.7270-193C>T rs74747212 0.05390
NM_001271938.2(MEGF8):c.3550+118C>T rs76757277 0.04729
NM_001271938.2(MEGF8):c.2223C>T (p.Asp741=) rs34922891 0.04467
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=) rs61995685 0.04463
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=) rs149155949 0.04455
NM_001271938.2(MEGF8):c.1513+199T>C rs78310231 0.04454
NM_001271938.2(MEGF8):c.4831-81G>A rs73033434 0.04044
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255 0.03322
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802 0.03297
NM_001271938.2(MEGF8):c.7270-306G>A rs8109153 0.03282
NM_001271938.2(MEGF8):c.1789-149G>A rs28711448 0.02935
NM_001271938.2(MEGF8):c.6059-181C>T rs184090168 0.02917
NM_001271938.2(MEGF8):c.1933+13A>G rs139484187 0.02617
NM_001271938.2(MEGF8):c.6835-59C>T rs10407155 0.02389
NM_001271938.2(MEGF8):c.6641+216G>C rs10426267 0.02387
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783 0.02385
NM_001271938.2(MEGF8):c.6835-120C>G rs10406972 0.02384
NM_001271938.2(MEGF8):c.4012-72C>G rs45618138 0.02284
NM_001271938.2(MEGF8):c.2736+69G>A rs78937277 0.02283
NM_001271938.2(MEGF8):c.2500-218C>G rs75057997 0.02275
NM_001271938.2(MEGF8):c.1514-236T>C rs73554531 0.02198
NM_001271938.2(MEGF8):c.1514-175C>T rs78159841 0.02186
NM_001271938.2(MEGF8):c.558+52G>C rs73554520 0.02162
NM_001271938.2(MEGF8):c.-159A>T rs111536758 0.01957
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630 0.01684
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598 0.01653
NM_001271938.2(MEGF8):c.1513+295C>G rs10425003 0.01645
NM_001271938.2(MEGF8):c.7136+237C>T rs60492273 0.01643
NM_001271938.2(MEGF8):c.5176-38G>A rs28675764 0.01641
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498 0.01637
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246 0.01393
NM_001271938.2(MEGF8):c.6835-58G>A rs115157984 0.01341
NM_001271938.2(MEGF8):c.3551-105C>T rs111517690 0.01302
NM_001271938.2(MEGF8):c.188-111A>G rs78249686 0.01277
NM_001271938.2(MEGF8):c.1245-73G>A rs1206036 0.01261
NM_001271938.2(MEGF8):c.6641+243C>T rs1206030 0.01259
NM_001271938.2(MEGF8):c.5011+182C>T rs1206039 0.01255
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447 0.01216
NM_001271938.2(MEGF8):c.1669-113C>T rs115574025 0.01197
NM_001271938.2(MEGF8):c.7136+239T>A rs187530470 0.00976
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071 0.00974
NM_001271938.2(MEGF8):c.6641+15G>A rs118098511 0.00926
NM_001271938.2(MEGF8):c.2097+84C>T rs184570085 0.00872
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304 0.00870
NM_001271938.2(MEGF8):c.5011+15C>T rs78233194 0.00745
NM_001271938.2(MEGF8):c.5489-16C>T rs35875097 0.00707
NM_001271938.2(MEGF8):c.4012-181T>C rs145602821 0.00673
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096 0.00664
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796 0.00640
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997 0.00639
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529 0.00618
NM_001271938.2(MEGF8):c.1668+83G>T rs116535985 0.00603
NM_001271938.2(MEGF8):c.829-176C>T rs75204409 0.00603
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834 0.00602
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405 0.00506
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414 0.00506
NM_001271938.2(MEGF8):c.2737-228G>A rs150709320 0.00482
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998 0.00407
NM_001271938.2(MEGF8):c.4831-124C>T rs137950266 0.00406
NM_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_001271938.2(MEGF8):c.6273+132C>T rs537583944 0.00393
NM_001271938.2(MEGF8):c.5721-189G>A rs193097665 0.00362
NM_001271938.2(MEGF8):c.5489-293G>C rs151202529 0.00358
NM_001271938.2(MEGF8):c.739+39G>A rs201427842 0.00354
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135 0.00308
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596 0.00266
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204 0.00251
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) rs141224456 0.00186
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=) rs145886667 0.00177
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237 0.00153
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986 0.00105
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=) rs373759775 0.00097
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=) rs140035679 0.00096
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu) rs367649187 0.00091
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715 0.00084
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala) rs139192223 0.00074
NM_001271938.2(MEGF8):c.2357C>G (p.Pro786Arg) rs114954140 0.00068
NM_001271938.2(MEGF8):c.8433C>T (p.His2811=) rs371191311 0.00067
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610 0.00066
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125 0.00061
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) rs73033442 0.00055
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188 0.00052
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248 0.00051
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615 0.00039
NM_001271938.2(MEGF8):c.6222G>A (p.Lys2074=) rs150834651 0.00039
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=) rs377093238 0.00034
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477 0.00029
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys) rs143215498 0.00029
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln) rs201140958 0.00027
NM_001271938.2(MEGF8):c.3626G>A (p.Arg1209Gln) rs556378666 0.00024
NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=) rs370578585 0.00022
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=) rs371090576 0.00015
NM_001271938.2(MEGF8):c.7875C>T (p.Pro2625=) rs572813671 0.00013
NM_001271938.2(MEGF8):c.7014C>T (p.Asn2338=) rs537788689 0.00012
NM_001271938.2(MEGF8):c.7476G>A (p.Thr2492=) rs199786210 0.00011
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 0.00011
NM_001271938.2(MEGF8):c.2781C>T (p.Asp927=) rs761765707 0.00010
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg) rs147068787 0.00009
NM_001271938.2(MEGF8):c.6570C>T (p.Asn2190=) rs767893103 0.00009
NM_001271938.2(MEGF8):c.8169C>T (p.Pro2723=) rs138179740 0.00009
NM_001271938.2(MEGF8):c.4675G>A (p.Gly1559Arg) rs760852092 0.00008
NM_001271938.2(MEGF8):c.4569G>A (p.Leu1523=) rs201294981 0.00006
NM_001271938.2(MEGF8):c.4800C>T (p.Asn1600=) rs756781768 0.00006
NM_001271938.2(MEGF8):c.5353C>T (p.Arg1785Trp) rs772299336 0.00006
NM_001271938.2(MEGF8):c.5740C>G (p.Pro1914Ala) rs147084460 0.00006
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) rs372350131 0.00006
NM_001271938.2(MEGF8):c.3841C>T (p.Arg1281Trp) rs371283114 0.00005
NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys) rs142361779 0.00005
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln) rs766621187 0.00005
NM_001271938.2(MEGF8):c.3711C>T (p.Thr1237=) rs746140237 0.00004
NM_001271938.2(MEGF8):c.485C>T (p.Pro162Leu) rs770734416 0.00004
NM_001271938.2(MEGF8):c.8284G>A (p.Gly2762Arg) rs770472361 0.00004
NM_001271938.2(MEGF8):c.1017T>A (p.Ala339=) rs929955230 0.00003
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys) rs554274233 0.00003
NM_001271938.2(MEGF8):c.1302G>A (p.Thr434=) rs1447869448 0.00003
NM_001271938.2(MEGF8):c.1992G>A (p.Ala664=) rs753660883 0.00003
NM_001271938.2(MEGF8):c.3392C>T (p.Pro1131Leu) rs748525586 0.00003
NM_001271938.2(MEGF8):c.3648C>T (p.His1216=) rs144358189 0.00003
NM_001271938.2(MEGF8):c.4289C>T (p.Ala1430Val) rs777183202 0.00003
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu) rs757227265 0.00003
NM_001271938.2(MEGF8):c.5581G>A (p.Gly1861Arg) rs774973725 0.00003
NM_001271938.2(MEGF8):c.5739C>T (p.Ser1913=) rs770625540 0.00003
NM_001271938.2(MEGF8):c.6705C>T (p.Pro2235=) rs149735243 0.00003
NM_001271938.2(MEGF8):c.8310C>T (p.Leu2770=) rs745409996 0.00003
NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe) rs1064796651 0.00002
NM_001271938.2(MEGF8):c.1315C>T (p.Arg439Trp) rs769862975 0.00002
NM_001271938.2(MEGF8):c.1626G>A (p.Ala542=) rs1053183256 0.00002
NM_001271938.2(MEGF8):c.2485G>A (p.Val829Met) rs530378456 0.00002
NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys) rs760894078 0.00002
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys) rs747096596 0.00002
NM_001271938.2(MEGF8):c.4661C>T (p.Ala1554Val) rs774083503 0.00002
NM_001271938.2(MEGF8):c.1064C>T (p.Pro355Leu) rs201929902 0.00001
NM_001271938.2(MEGF8):c.1514-4C>T rs755380059 0.00001
NM_001271938.2(MEGF8):c.2173T>A (p.Phe725Ile) rs1050470092 0.00001
NM_001271938.2(MEGF8):c.2477G>A (p.Arg826Gln) rs775071124 0.00001
NM_001271938.2(MEGF8):c.3037C>G (p.His1013Asp) rs761975438 0.00001
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=) rs540512909 0.00001
NM_001271938.2(MEGF8):c.3732C>G (p.Leu1244=) rs760828598 0.00001
NM_001271938.2(MEGF8):c.4237G>A (p.Gly1413Arg) rs768127043 0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292 0.00001
NM_001271938.2(MEGF8):c.4363G>A (p.Ala1455Thr) rs2039445965 0.00001
NM_001271938.2(MEGF8):c.4584C>T (p.Gly1528=) rs1423270553 0.00001
NM_001271938.2(MEGF8):c.4655T>C (p.Met1552Thr) rs901194855 0.00001
NM_001271938.2(MEGF8):c.5262A>G (p.Glu1754=) rs1600060450 0.00001
NM_001271938.2(MEGF8):c.5407C>T (p.Arg1803Cys) rs755807533 0.00001
NM_001271938.2(MEGF8):c.5422G>A (p.Glu1808Lys) rs771890594 0.00001
NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) rs1471300485 0.00001
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716 0.00001
NM_001271938.2(MEGF8):c.6440G>A (p.Gly2147Asp) rs763943694 0.00001
NM_001271938.2(MEGF8):c.6641+7C>G rs1429052708 0.00001
NM_001271938.2(MEGF8):c.8223T>G (p.Gly2741=) rs750507989 0.00001
NM_001271938.2(MEGF8):c.8496G>A (p.Lys2832=) rs1600083903 0.00001
NM_001271938.2(MEGF8):c.901G>A (p.Gly301Ser) rs369528104 0.00001
NM_001271938.2(MEGF8):c.1031A>G (p.Asp344Gly)
NM_001271938.2(MEGF8):c.1122C>T (p.Gly374=) rs1600017981
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1312G>T (p.Gly438Trp)
NM_001271938.2(MEGF8):c.1513+319dup rs908319656
NM_001271938.2(MEGF8):c.1548T>C (p.His516=)
NM_001271938.2(MEGF8):c.188-101A>G rs10421409
NM_001271938.2(MEGF8):c.2230G>A (p.Val744Met)
NM_001271938.2(MEGF8):c.2269A>G (p.Met757Val)
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001271938.2(MEGF8):c.2299-179del rs1268884391
NM_001271938.2(MEGF8):c.2530C>G (p.Arg844Gly)
NM_001271938.2(MEGF8):c.2535G>A (p.Ser845=)
NM_001271938.2(MEGF8):c.2547C>G (p.Thr849=)
NM_001271938.2(MEGF8):c.2572T>C (p.Leu858=)
NM_001271938.2(MEGF8):c.2624G>A (p.Arg875His)
NM_001271938.2(MEGF8):c.2635G>T (p.Ala879Ser)
NM_001271938.2(MEGF8):c.2736+80G>T rs76031723
NM_001271938.2(MEGF8):c.2866T>C (p.Cys956Arg)
NM_001271938.2(MEGF8):c.3018C>T (p.Cys1006=)
NM_001271938.2(MEGF8):c.3108A>G (p.Leu1036=)
NM_001271938.2(MEGF8):c.3133G>A (p.Gly1045Ser) rs756780589
NM_001271938.2(MEGF8):c.3223G>A (p.Val1075Met)
NM_001271938.2(MEGF8):c.3279C>T (p.Asn1093=) rs917844176
NM_001271938.2(MEGF8):c.3643G>A (p.Gly1215Arg)
NM_001271938.2(MEGF8):c.3782G>A (p.Arg1261Gln)
NM_001271938.2(MEGF8):c.3931G>A (p.Glu1311Lys)
NM_001271938.2(MEGF8):c.4011+107del rs36065839
NM_001271938.2(MEGF8):c.4185C>T (p.Ser1395=) rs1401628613
NM_001271938.2(MEGF8):c.4290G>A (p.Ala1430=)
NM_001271938.2(MEGF8):c.4430G>T (p.Gly1477Val)
NM_001271938.2(MEGF8):c.4434C>G (p.Pro1478=) rs371090576
NM_001271938.2(MEGF8):c.4435G>A (p.Asp1479Asn)
NM_001271938.2(MEGF8):c.4512C>T (p.Ala1504=)
NM_001271938.2(MEGF8):c.4835C>A (p.Pro1612His) rs138397020
NM_001271938.2(MEGF8):c.4857C>T (p.Ala1619=)
NM_001271938.2(MEGF8):c.497G>T (p.Gly166Val)
NM_001271938.2(MEGF8):c.5124G>A (p.Leu1708=) rs1600059519
NM_001271938.2(MEGF8):c.5281C>T (p.Leu1761=) rs150607375
NM_001271938.2(MEGF8):c.543C>T (p.His181=) rs776522130
NM_001271938.2(MEGF8):c.5722C>T (p.Leu1908=)
NM_001271938.2(MEGF8):c.6021G>C (p.Glu2007Asp) rs1235208244
NM_001271938.2(MEGF8):c.6219T>C (p.Ser2073=)
NM_001271938.2(MEGF8):c.6273+133G>T rs1613100
NM_001271938.2(MEGF8):c.6307A>G (p.Met2103Val)
NM_001271938.2(MEGF8):c.6359G>C (p.Gly2120Ala)
NM_001271938.2(MEGF8):c.6533C>G (p.Pro2178Arg) rs575829700
NM_001271938.2(MEGF8):c.6688G>A (p.Gly2230Ser)
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001271938.2(MEGF8):c.6716G>A (p.Arg2239His)
NM_001271938.2(MEGF8):c.6834+207G>C rs10407085
NM_001271938.2(MEGF8):c.7003G>A (p.Glu2335Lys) rs2147509511
NM_001271938.2(MEGF8):c.7136+12C>G rs375712517
NM_001271938.2(MEGF8):c.7136+12C>T rs375712517
NM_001271938.2(MEGF8):c.7136+18G>C rs12971374
NM_001271938.2(MEGF8):c.7136+234_7136+235insAC rs373560402
NM_001271938.2(MEGF8):c.7136+235_7136+237dup rs113840732
NM_001271938.2(MEGF8):c.7136+24G>T rs773280367
NM_001271938.2(MEGF8):c.7136+26G>T rs766852550
NM_001271938.2(MEGF8):c.7136+33G>T rs11882162
NM_001271938.2(MEGF8):c.7136+34_7136+41del rs748624378
NM_001271938.2(MEGF8):c.7136+36_7136+41del rs748624378
NM_001271938.2(MEGF8):c.7269+327A>T rs11882801
NM_001271938.2(MEGF8):c.7327C>T (p.Arg2443Cys)
NM_001271938.2(MEGF8):c.7401C>A (p.Arg2467=) rs781629694
NM_001271938.2(MEGF8):c.7401C>T (p.Arg2467=)
NM_001271938.2(MEGF8):c.7440G>C (p.Val2480=) rs1600082135
NM_001271938.2(MEGF8):c.7587C>T (p.Pro2529=) rs1600082407
NM_001271938.2(MEGF8):c.7621G>A (p.Gly2541Ser)
NM_001271938.2(MEGF8):c.7758G>A (p.Val2586=)
NM_001271938.2(MEGF8):c.7761G>C (p.Leu2587=)
NM_001271938.2(MEGF8):c.7774G>T (p.Val2592Leu) rs148860986
NM_001271938.2(MEGF8):c.7785G>A (p.Arg2595=)
NM_001271938.2(MEGF8):c.7786C>A (p.Leu2596Met) rs140517402
NM_001271938.2(MEGF8):c.7786C>T (p.Leu2596=)
NM_001271938.2(MEGF8):c.7855G>A (p.Val2619Met)
NM_001271938.2(MEGF8):c.8151G>A (p.Pro2717=)
NM_001271938.2(MEGF8):c.828+23G>A
NM_001271938.2(MEGF8):c.8381C>G (p.Pro2794Arg) rs2147521192
NM_001271938.2(MEGF8):c.8409C>T (p.Leu2803=)

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