ClinVar Miner

List of variants in gene MYOF

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Gene type:
ClinVar version:
Total variants: 260
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HGVS dbSNP gnomAD frequency
NM_013451.4(MYOF):c.5760A>G (p.Arg1920=) rs787666 0.83599
NM_013451.4(MYOF):c.1533A>G (p.Arg511=) rs17108594 0.07251
NM_013451.4(MYOF):c.5409C>T (p.Asp1803=) rs34048939 0.04578
NM_013451.4(MYOF):c.5397C>T (p.Asp1799=) rs35527060 0.04236
NM_013451.4(MYOF):c.3406G>A (p.Val1136Ile) rs36032890 0.02774
NM_013451.4(MYOF):c.4377T>C (p.Ala1459=) rs34406474 0.01566
NM_013451.4(MYOF):c.1643C>T (p.Thr548Ile) rs117595198 0.01338
NM_013451.4(MYOF):c.4998C>G (p.Thr1666=) rs34731189 0.01326
NM_013451.4(MYOF):c.3822+7T>C rs55993578 0.01037
NM_013451.4(MYOF):c.4603G>A (p.Val1535Met) rs34676128 0.00961
NM_013451.4(MYOF):c.5260A>G (p.Asn1754Asp) rs34689790 0.00690
NM_013451.4(MYOF):c.292T>A (p.Ser98Thr) rs180853104 0.00518
NM_013451.4(MYOF):c.1118-4C>T rs182543591 0.00455
NM_013451.4(MYOF):c.2114C>T (p.Thr705Met) rs150897152 0.00362
NM_013451.4(MYOF):c.2232C>T (p.Ala744=) rs141523035 0.00346
NM_013451.4(MYOF):c.3544C>T (p.Leu1182=) rs140479409 0.00206
NM_013451.4(MYOF):c.5591C>T (p.Ala1864Val) rs146626145 0.00202
NM_013451.4(MYOF):c.3697T>A (p.Ser1233Thr) rs34777013 0.00160
NM_013451.4(MYOF):c.1493C>T (p.Thr498Met) rs190149415 0.00153
NM_013451.4(MYOF):c.2766G>A (p.Glu922=) rs371075702 0.00146
NM_013451.4(MYOF):c.2783C>T (p.Thr928Met) rs142449029 0.00136
NM_013451.4(MYOF):c.4015G>A (p.Glu1339Lys) rs201086819 0.00101
NM_013451.4(MYOF):c.5347C>T (p.Arg1783Trp) rs199815755 0.00100
NM_013451.4(MYOF):c.2001+10T>A rs201083045 0.00094
NM_013451.4(MYOF):c.469T>C (p.Leu157=) rs200337145 0.00069
NM_013451.4(MYOF):c.5667C>A (p.Asp1889Glu) rs201166887 0.00068
NM_013451.4(MYOF):c.1608G>A (p.Arg536=) rs202052471 0.00066
NM_013451.4(MYOF):c.2895C>T (p.Ser965=) rs116994405 0.00066
NM_013451.4(MYOF):c.4237C>G (p.Pro1413Ala) rs150283160 0.00065
NM_013451.4(MYOF):c.4200T>A (p.Phe1400Leu) rs41298243 0.00058
NM_013451.4(MYOF):c.246C>T (p.Gly82=) rs200611039 0.00044
NM_013451.4(MYOF):c.5719C>T (p.Arg1907Cys) rs138208183 0.00044
NM_013451.4(MYOF):c.5586C>T (p.Ile1862=) rs181874899 0.00034
NM_013451.4(MYOF):c.566G>A (p.Arg189Gln) rs200722080 0.00032
NM_013451.4(MYOF):c.4811+7T>C rs373630294 0.00030
NM_013451.4(MYOF):c.2845G>A (p.Ala949Thr) rs768018859 0.00027
NM_013451.4(MYOF):c.4482G>A (p.Leu1494=) rs376304895 0.00023
NM_013451.4(MYOF):c.5774C>T (p.Pro1925Leu) rs199884146 0.00023
NM_013451.4(MYOF):c.5879G>A (p.Arg1960His) rs369620858 0.00021
NM_013451.4(MYOF):c.4797C>G (p.Asn1599Lys) rs202041377 0.00019
NM_013451.4(MYOF):c.2349G>C (p.Glu783Asp) rs534145089 0.00017
NM_013451.4(MYOF):c.2177G>A (p.Arg726Gln) rs41296137 0.00016
NM_013451.4(MYOF):c.3244C>T (p.Pro1082Ser) rs200778017 0.00015
NM_013451.4(MYOF):c.5449G>A (p.Val1817Ile) rs187814862 0.00014
NM_013451.4(MYOF):c.2479G>A (p.Gly827Arg) rs149848851 0.00012
NM_013451.4(MYOF):c.2960C>T (p.Ala987Val) rs371303456 0.00012
NM_013451.4(MYOF):c.1417+3A>C rs371433234 0.00011
NM_013451.4(MYOF):c.3425G>A (p.Arg1142His) rs199761118 0.00011
NM_013451.4(MYOF):c.1616T>C (p.Val539Ala) rs575373979 0.00010
NM_013451.4(MYOF):c.4943G>A (p.Arg1648His) rs374348145 0.00010
NM_013451.4(MYOF):c.5922C>T (p.Asn1974=) rs186335544 0.00010
NM_013451.4(MYOF):c.1714C>T (p.Arg572Trp) rs764965243 0.00009
NM_013451.4(MYOF):c.5878C>T (p.Arg1960Cys) rs374294319 0.00009
NM_013451.4(MYOF):c.5935G>A (p.Asp1979Asn) rs180931942 0.00009
NM_013451.4(MYOF):c.164G>C (p.Arg55Thr) rs370389342 0.00008
NM_013451.4(MYOF):c.2105C>T (p.Thr702Met) rs375539225 0.00008
NM_013451.4(MYOF):c.2263G>A (p.Glu755Lys) rs548233193 0.00008
NM_013451.4(MYOF):c.4819G>A (p.Glu1607Lys) rs367626173 0.00008
NM_013451.4(MYOF):c.4402G>A (p.Gly1468Arg) rs767025864 0.00007
NM_013451.4(MYOF):c.5860G>A (p.Ala1954Thr) rs377745370 0.00006
NM_013451.4(MYOF):c.2141A>G (p.Asn714Ser) rs552853081 0.00005
NM_013451.4(MYOF):c.2940G>A (p.Trp980Ter) rs201932767 0.00005
NM_013451.4(MYOF):c.3511C>T (p.Arg1171Trp) rs529445117 0.00005
NM_013451.4(MYOF):c.3851C>A (p.Pro1284His) rs200385861 0.00005
NM_013451.4(MYOF):c.3922-10G>A rs762204382 0.00005
NM_013451.4(MYOF):c.569G>A (p.Arg190Gln) rs374976050 0.00005
NM_013451.4(MYOF):c.817G>A (p.Ala273Thr) rs748584980 0.00005
NM_013451.4(MYOF):c.252G>A (p.Ala84=) rs375432077 0.00004
NM_013451.4(MYOF):c.4627C>T (p.Arg1543Trp) rs761947674 0.00004
NM_013451.4(MYOF):c.4813A>G (p.Met1605Val) rs776610506 0.00004
NM_013451.4(MYOF):c.4888C>T (p.Arg1630Trp) rs375438315 0.00004
NM_013451.4(MYOF):c.6127G>A (p.Val2043Met) rs780555861 0.00004
NM_013451.4(MYOF):c.1061C>T (p.Ala354Val) rs369657488 0.00003
NM_013451.4(MYOF):c.126G>T (p.Leu42Phe) rs373845550 0.00003
NM_013451.4(MYOF):c.1679A>C (p.Asp560Ala) rs563338043 0.00003
NM_013451.4(MYOF):c.1984G>A (p.Ala662Thr) rs746847097 0.00003
NM_013451.4(MYOF):c.3725T>C (p.Met1242Thr) rs1369008044 0.00003
NM_013451.4(MYOF):c.4568C>T (p.Ser1523Phe) rs769004048 0.00003
NM_013451.4(MYOF):c.5372G>A (p.Arg1791His) rs375863813 0.00003
NM_013451.4(MYOF):c.671T>A (p.Val224Asp) rs191351447 0.00003
NM_013451.4(MYOF):c.1326A>G (p.Ile442Met) rs369597612 0.00002
NM_013451.4(MYOF):c.1387A>G (p.Lys463Glu) rs777321633 0.00002
NM_013451.4(MYOF):c.2220G>A (p.Met740Ile) rs765479645 0.00002
NM_013451.4(MYOF):c.284A>G (p.Gln95Arg) rs748623906 0.00002
NM_013451.4(MYOF):c.3215G>A (p.Arg1072His) rs767672177 0.00002
NM_013451.4(MYOF):c.4223A>G (p.Lys1408Arg) rs202160206 0.00002
NM_013451.4(MYOF):c.5624C>T (p.Thr1875Met) rs369487360 0.00002
NM_013451.4(MYOF):c.60G>A (p.Pro20=) rs765518488 0.00002
NM_013451.4(MYOF):c.1072G>C (p.Val358Leu) rs371940653 0.00001
NM_013451.4(MYOF):c.1338C>A (p.Asp446Glu) rs1847002910 0.00001
NM_013451.4(MYOF):c.1363G>A (p.Gly455Arg) rs1847001399 0.00001
NM_013451.4(MYOF):c.1504T>C (p.Cys502Arg) rs760652572 0.00001
NM_013451.4(MYOF):c.2174T>C (p.Leu725Pro) rs765235466 0.00001
NM_013451.4(MYOF):c.2184G>T (p.Arg728Ser) rs767353059 0.00001
NM_013451.4(MYOF):c.2230G>A (p.Ala744Thr) rs200759651 0.00001
NM_013451.4(MYOF):c.237A>T (p.Lys79Asn) rs1848869897 0.00001
NM_013451.4(MYOF):c.2558C>T (p.Ala853Val) rs1287691970 0.00001
NM_013451.4(MYOF):c.2615G>A (p.Gly872Glu) rs757210457 0.00001
NM_013451.4(MYOF):c.2750G>C (p.Arg917Thr) rs374461794 0.00001
NM_013451.4(MYOF):c.2812G>A (p.Glu938Lys) rs777103150 0.00001
NM_013451.4(MYOF):c.298C>T (p.Pro100Ser) rs369425898 0.00001
NM_013451.4(MYOF):c.3080G>A (p.Arg1027His) rs1027491134 0.00001
NM_013451.4(MYOF):c.3206A>G (p.Asp1069Gly) rs777611977 0.00001
NM_013451.4(MYOF):c.3223C>T (p.Arg1075Cys) rs181998538 0.00001
NM_013451.4(MYOF):c.3224G>A (p.Arg1075His) rs766420687 0.00001
NM_013451.4(MYOF):c.3309C>T (p.Thr1103=) rs762257204 0.00001
NM_013451.4(MYOF):c.3330C>A (p.Ser1110Arg) rs931776892 0.00001
NM_013451.4(MYOF):c.3578A>G (p.Asp1193Gly) rs1305781381 0.00001
NM_013451.4(MYOF):c.3751C>T (p.His1251Tyr) rs201019922 0.00001
NM_013451.4(MYOF):c.3986T>C (p.Leu1329Pro) rs1166308593 0.00001
NM_013451.4(MYOF):c.4196G>A (p.Arg1399His) rs747382999 0.00001
NM_013451.4(MYOF):c.4442A>G (p.Tyr1481Cys) rs775791990 0.00001
NM_013451.4(MYOF):c.4723G>C (p.Asp1575His) rs764941052 0.00001
NM_013451.4(MYOF):c.491C>T (p.Pro164Leu) rs554546769 0.00001
NM_013451.4(MYOF):c.5104G>A (p.Gly1702Arg) rs752903932 0.00001
NM_013451.4(MYOF):c.5108G>A (p.Arg1703Gln) rs910330432 0.00001
NM_013451.4(MYOF):c.5342C>A (p.Thr1781Lys) rs1316332254 0.00001
NM_013451.4(MYOF):c.5494G>C (p.Asp1832His) rs200252603 0.00001
NM_013451.4(MYOF):c.5661A>G (p.Ile1887Met) rs756083422 0.00001
NM_013451.4(MYOF):c.5738C>T (p.Ala1913Val) rs759301010 0.00001
NM_013451.4(MYOF):c.597C>G (p.Phe199Leu) rs1474082995 0.00001
NM_013451.4(MYOF):c.5990A>G (p.Asp1997Gly) rs1332601747 0.00001
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) rs1256778304 0.00001
NM_013451.4(MYOF):c.725A>T (p.Asp242Val) rs1306476366 0.00001
NM_013451.4(MYOF):c.946A>G (p.Met316Val) rs1269772174 0.00001
GRCh37/hg19 10q23.33(chr10:94970750-95184396)x1
NM_013451.4(MYOF):c.1006C>A (p.Arg336Ser)
NM_013451.4(MYOF):c.1007G>A (p.Arg336His)
NM_013451.4(MYOF):c.1007G>C (p.Arg336Pro)
NM_013451.4(MYOF):c.1040T>C (p.Leu347Ser)
NM_013451.4(MYOF):c.1066C>T (p.Arg356Trp)
NM_013451.4(MYOF):c.1097G>A (p.Arg366Gln)
NM_013451.4(MYOF):c.1130T>C (p.Phe377Ser)
NM_013451.4(MYOF):c.1152A>G (p.Ile384Met) rs1480170939
NM_013451.4(MYOF):c.1164T>G (p.Asn388Lys)
NM_013451.4(MYOF):c.1169A>T (p.Asp390Val) rs377292560
NM_013451.4(MYOF):c.1183G>A (p.Val395Met) rs373997810
NM_013451.4(MYOF):c.1222G>A (p.Val408Ile)
NM_013451.4(MYOF):c.1229C>T (p.Thr410Ile) rs760821493
NM_013451.4(MYOF):c.1273G>A (p.Val425Ile) rs771328774
NM_013451.4(MYOF):c.1339C>A (p.Arg447Ser)
NM_013451.4(MYOF):c.1348A>G (p.Lys450Glu)
NM_013451.4(MYOF):c.1361T>C (p.Val454Ala)
NM_013451.4(MYOF):c.1366A>G (p.Thr456Ala) rs1421423935
NM_013451.4(MYOF):c.1378C>T (p.His460Tyr) rs2493337495
NM_013451.4(MYOF):c.1489C>T (p.Pro497Ser) rs761425525
NM_013451.4(MYOF):c.1531A>G (p.Arg511Gly)
NM_013451.4(MYOF):c.1561G>C (p.Asp521His)
NM_013451.4(MYOF):c.1594G>A (p.Ala532Thr) rs751474477
NM_013451.4(MYOF):c.1628C>T (p.Thr543Ile)
NM_013451.4(MYOF):c.1648C>T (p.Pro550Ser) rs1444885012
NM_013451.4(MYOF):c.1742A>G (p.His581Arg) rs1003768410
NM_013451.4(MYOF):c.1780C>G (p.Gln594Glu) rs1406580055
NM_013451.4(MYOF):c.1811A>G (p.Asn604Ser) rs2493218643
NM_013451.4(MYOF):c.1868T>C (p.Val623Ala) rs1192886702
NM_013451.4(MYOF):c.1916C>A (p.Pro639Gln)
NM_013451.4(MYOF):c.1937A>G (p.Tyr646Cys)
NM_013451.4(MYOF):c.1973A>G (p.Asn658Ser)
NM_013451.4(MYOF):c.1987A>G (p.Met663Val)
NM_013451.4(MYOF):c.2037A>C (p.Gln679His)
NM_013451.4(MYOF):c.2047C>T (p.Pro683Ser) rs1487044466
NM_013451.4(MYOF):c.2126C>G (p.Thr709Arg)
NM_013451.4(MYOF):c.2222G>A (p.Arg741Lys)
NM_013451.4(MYOF):c.230A>G (p.Gln77Arg)
NM_013451.4(MYOF):c.2316G>A (p.Met772Ile)
NM_013451.4(MYOF):c.2342G>A (p.Arg781Gln)
NM_013451.4(MYOF):c.2399C>T (p.Thr800Ile)
NM_013451.4(MYOF):c.2487G>T (p.Lys829Asn) rs779524437
NM_013451.4(MYOF):c.249G>A (p.Thr83=) rs199793976
NM_013451.4(MYOF):c.2504G>A (p.Arg835Gln) rs373363357
NM_013451.4(MYOF):c.2504G>T (p.Arg835Leu) rs373363357
NM_013451.4(MYOF):c.2527A>C (p.Ser843Arg)
NM_013451.4(MYOF):c.2537A>G (p.Glu846Gly)
NM_013451.4(MYOF):c.2614_2615insC (p.Gly872fs) rs2133946527
NM_013451.4(MYOF):c.2644C>T (p.Arg882Cys)
NM_013451.4(MYOF):c.2645G>A (p.Arg882His)
NM_013451.4(MYOF):c.2733G>C (p.Trp911Cys) rs1215484175
NM_013451.4(MYOF):c.2818C>T (p.Arg940Cys)
NM_013451.4(MYOF):c.2830G>A (p.Gly944Ser)
NM_013451.4(MYOF):c.2835C>A (p.Asp945Glu)
NM_013451.4(MYOF):c.2885C>G (p.Ala962Gly)
NM_013451.4(MYOF):c.2894G>A (p.Ser965Asn)
NM_013451.4(MYOF):c.2915G>C (p.Gly972Ala)
NM_013451.4(MYOF):c.3062G>A (p.Arg1021Gln) rs375030658
NM_013451.4(MYOF):c.3085A>G (p.Lys1029Glu) rs2493050010
NM_013451.4(MYOF):c.3160G>C (p.Ala1054Pro) rs1844827186
NM_013451.4(MYOF):c.3163T>G (p.Ser1055Ala) rs1323901406
NM_013451.4(MYOF):c.3310G>A (p.Glu1104Lys)
NM_013451.4(MYOF):c.3340C>G (p.Gln1114Glu)
NM_013451.4(MYOF):c.3419A>G (p.His1140Arg) rs753054190
NM_013451.4(MYOF):c.341C>T (p.Thr114Ile) rs201492572
NM_013451.4(MYOF):c.3471T>G (p.Asp1157Glu)
NM_013451.4(MYOF):c.3511C>G (p.Arg1171Gly) rs529445117
NM_013451.4(MYOF):c.3546G>A (p.Leu1182=) rs774246060
NM_013451.4(MYOF):c.367G>A (p.Gly123Ser)
NM_013451.4(MYOF):c.3688A>G (p.Ser1230Gly) rs1844514024
NM_013451.4(MYOF):c.3698C>A (p.Ser1233Tyr)
NM_013451.4(MYOF):c.3727G>A (p.Asp1243Asn)
NM_013451.4(MYOF):c.3743T>G (p.Leu1248Arg) rs2492972867
NM_013451.4(MYOF):c.3755C>T (p.Pro1252Leu) rs2492972645
NM_013451.4(MYOF):c.378G>T (p.Pro126=) rs779836306
NM_013451.4(MYOF):c.3862C>T (p.Pro1288Ser) rs2492969839
NM_013451.4(MYOF):c.3946A>G (p.Met1316Val)
NM_013451.4(MYOF):c.3971T>C (p.Ile1324Thr)
NM_013451.4(MYOF):c.3998G>A (p.Cys1333Tyr) rs2492956717
NM_013451.4(MYOF):c.4076T>A (p.Met1359Lys)
NM_013451.4(MYOF):c.408C>G (p.Ser136Arg) rs762163573
NM_013451.4(MYOF):c.4111C>A (p.Pro1371Thr)
NM_013451.4(MYOF):c.4135G>A (p.Asp1379Asn) rs1486536578
NM_013451.4(MYOF):c.418G>A (p.Val140Met)
NM_013451.4(MYOF):c.4247A>G (p.Lys1416Arg)
NM_013451.4(MYOF):c.4304C>A (p.Thr1435Asn)
NM_013451.4(MYOF):c.4311A>G (p.Pro1437=) rs746524199
NM_013451.4(MYOF):c.4349T>C (p.Ile1450Thr) rs2492846277
NM_013451.4(MYOF):c.4373A>G (p.Tyr1458Cys)
NM_013451.4(MYOF):c.4403G>C (p.Gly1468Ala)
NM_013451.4(MYOF):c.4514G>A (p.Arg1505Gln)
NM_013451.4(MYOF):c.4558T>A (p.Phe1520Ile)
NM_013451.4(MYOF):c.4573C>T (p.Arg1525Trp) rs201634420
NM_013451.4(MYOF):c.4589C>T (p.Pro1530Leu)
NM_013451.4(MYOF):c.4645G>A (p.Val1549Ile) rs762488103
NM_013451.4(MYOF):c.4661C>T (p.Thr1554Met) rs567247614
NM_013451.4(MYOF):c.4725C>A (p.Asp1575Glu)
NM_013451.4(MYOF):c.476A>G (p.Asn159Ser)
NM_013451.4(MYOF):c.4789A>C (p.Thr1597Pro) rs2492799814
NM_013451.4(MYOF):c.4870G>A (p.Asp1624Asn) rs780712576
NM_013451.4(MYOF):c.4870G>T (p.Asp1624Tyr) rs780712576
NM_013451.4(MYOF):c.4889G>A (p.Arg1630Gln) rs371413309
NM_013451.4(MYOF):c.4931G>T (p.Arg1644Leu)
NM_013451.4(MYOF):c.4937T>C (p.Leu1646Pro)
NM_013451.4(MYOF):c.4970A>T (p.Glu1657Val) rs1367469016
NM_013451.4(MYOF):c.5121G>C (p.Leu1707Phe)
NM_013451.4(MYOF):c.5129T>C (p.Phe1710Ser)
NM_013451.4(MYOF):c.5168C>T (p.Pro1723Leu)
NM_013451.4(MYOF):c.5271+9C>T rs139828446
NM_013451.4(MYOF):c.5318C>T (p.Pro1773Leu)
NM_013451.4(MYOF):c.5332T>C (p.Phe1778Leu)
NM_013451.4(MYOF):c.5456+3A>G
NM_013451.4(MYOF):c.562A>G (p.Ser188Gly) rs2493449645
NM_013451.4(MYOF):c.5767A>T (p.Met1923Leu) rs1386310440
NM_013451.4(MYOF):c.5785G>A (p.Ala1929Thr) rs2492624150
NM_013451.4(MYOF):c.5795C>A (p.Pro1932His) rs1289683651
NM_013451.4(MYOF):c.5815T>A (p.Ser1939Thr)
NM_013451.4(MYOF):c.5860G>T (p.Ala1954Ser)
NM_013451.4(MYOF):c.5921A>G (p.Asn1974Ser) rs1312355596
NM_013451.4(MYOF):c.5923G>A (p.Glu1975Lys)
NM_013451.4(MYOF):c.5932G>A (p.Ala1978Thr) rs2492601970
NM_013451.4(MYOF):c.5959C>A (p.Arg1987=) rs201849605
NM_013451.4(MYOF):c.5959C>T (p.Arg1987Trp) rs201849605
NM_013451.4(MYOF):c.5965G>A (p.Glu1989Lys)
NM_013451.4(MYOF):c.5967A>G (p.Glu1989=) rs932937367
NM_013451.4(MYOF):c.5999+6_5999+7del
NM_013451.4(MYOF):c.6059T>C (p.Val2020Ala) rs2492594737
NM_013451.4(MYOF):c.611G>A (p.Arg204Gln)
NM_013451.4(MYOF):c.6120C>A (p.Phe2040Leu) rs772809321
NM_013451.4(MYOF):c.6130C>G (p.Leu2044Val)
NM_013451.4(MYOF):c.639T>C (p.Gly213=)
NM_013451.4(MYOF):c.734T>C (p.Phe245Ser)
NM_013451.4(MYOF):c.830T>C (p.Met277Thr)
NM_013451.4(MYOF):c.940G>C (p.Gly314Arg) rs373191266

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