ClinVar Miner

List of variants studied for visceral myopathy 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.2520+46C>G rs2384934 0.75311
NM_002474.3(MYH11):c.1743T>C (p.Ala581=) rs2272554 0.49695
NM_002474.3(MYH11):c.4117-44C>T rs11130 0.47916
NM_002474.3(MYH11):c.1249-11G>C rs2280764 0.46907
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_002474.3(MYH11):c.5083-46C>A rs11646134 0.41007
NM_002474.3(MYH11):c.2472C>T (p.Ala824=) rs1050113 0.26411
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_002474.3(MYH11):c.2061C>T (p.Ser687=) rs880071 0.06148
NM_002474.3(MYH11):c.2181-30C>T rs2293736 0.05943
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_002474.3(MYH11):c.346-16G>C rs74009446 0.00136
NM_002474.3(MYH11):c.4578+19T>C rs118072250 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648 0.00020
NM_002474.3(MYH11):c.1317C>T (p.Arg439=) rs183292376 0.00015
NM_002474.3(MYH11):c.1749+4C>G rs776271431 0.00015
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) rs144813247 0.00013
NM_002474.3(MYH11):c.633+1900G>A rs371799677 0.00013
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu) rs757270167 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002474.3(MYH11):c.4117-6T>G rs370252949 0.00010
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu) rs553877450 0.00008
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_002474.3(MYH11):c.2277C>G (p.Asn759Lys) rs140550319 0.00007
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441 0.00006
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val) rs373358736 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr) rs373815046 0.00005
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) rs201754049 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser) rs906679954 0.00004
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val) rs371205331 0.00004
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp) rs142227497 0.00004
NM_002474.3(MYH11):c.4319G>A (p.Arg1440Gln) rs763467593 0.00004
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 0.00004
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063 0.00004
NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr) rs146413415 0.00004
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser) rs149964928 0.00004
NM_002474.3(MYH11):c.101G>C (p.Arg34Thr) rs199654191 0.00003
NM_002474.3(MYH11):c.2158G>A (p.Val720Ile) rs756408490 0.00003
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys) rs201387564 0.00003
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met) rs763795192 0.00003
NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn) rs770319821 0.00003
NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val) rs1023178766 0.00003
NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) rs794728668 0.00003
NM_002474.3(MYH11):c.4791+5G>A rs376779423 0.00003
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His) rs781252922 0.00003
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr) rs187172581 0.00003
NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) rs765295579 0.00003
NM_002474.3(MYH11):c.200A>G (p.Lys67Arg) rs777426396 0.00002
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser) rs760793367 0.00002
NM_002474.3(MYH11):c.2082G>A (p.Leu694=) rs370934806 0.00002
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931 0.00002
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) rs771297865 0.00002
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) rs534384552 0.00002
NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys) rs758102556 0.00002
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) rs151101824 0.00002
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) rs748356212 0.00002
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp) rs759409339 0.00002
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) rs369409348 0.00002
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu) rs756025504 0.00002
NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys) rs757542362 0.00002
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln) rs1443593366 0.00002
NM_002474.3(MYH11):c.5C>T (p.Ala2Val) rs150600829 0.00002
NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly) rs1174407076 0.00001
NM_002474.3(MYH11):c.119C>T (p.Ser40Leu) rs775927183 0.00001
NM_002474.3(MYH11):c.161A>G (p.Lys54Arg) rs1015353331 0.00001
NM_002474.3(MYH11):c.1864+8C>T rs1297078684 0.00001
NM_002474.3(MYH11):c.1993A>G (p.Met665Val) rs2041529040 0.00001
NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln) rs376758800 0.00001
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp) rs1275950124 0.00001
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) rs1050298581 0.00001
NM_002474.3(MYH11):c.2789G>A (p.Arg930His) rs1025259076 0.00001
NM_002474.3(MYH11):c.2863C>G (p.Leu955Val) rs145121051 0.00001
NM_002474.3(MYH11):c.3020G>A (p.Arg1007Lys) rs1357435865 0.00001
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr) rs193922629 0.00001
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg) rs558332944 0.00001
NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp) rs771515309 0.00001
NM_002474.3(MYH11):c.3724G>A (p.Val1242Ile) rs1399080640 0.00001
NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile) rs763285173 0.00001
NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys) rs780157741 0.00001
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys) rs769227102 0.00001
NM_002474.3(MYH11):c.412A>T (p.Ile138Phe) rs886039133 0.00001
NM_002474.3(MYH11):c.418G>A (p.Asp140Asn) rs1085307699 0.00001
NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser) rs151112745 0.00001
NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile) rs758663266 0.00001
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) rs367746199 0.00001
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn) rs200909802 0.00001
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys) rs761965886 0.00001
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680 0.00001
NM_002474.3(MYH11):c.4791+13G>A rs374628714 0.00001
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln) rs148433586 0.00001
NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys) rs764794087 0.00001
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile) rs761727438 0.00001
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser) rs1041344233 0.00001
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) rs759033733 0.00001
NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys) rs769802444 0.00001
NM_002474.3(MYH11):c.5684G>A (p.Arg1895His) rs375148396 0.00001
NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter) rs772670393 0.00001
NM_002474.3(MYH11):c.5829A>G (p.Gly1943=) rs199752132 0.00001
NM_002474.3(MYH11):c.685G>A (p.Gly229Ser) rs1242871546 0.00001
NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs) rs1596675237
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter) rs370858630
NM_001040113.2(MYH11):c.654+1G>A rs770424951
NM_002474.3(MYH11):c.1047G>A (p.Val349=) rs765006823
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala) rs886038993
NM_002474.3(MYH11):c.1282A>G (p.Thr428Ala) rs1555563221
NM_002474.3(MYH11):c.1402-8G>C rs529694413
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.1908G>A (p.Glu636=) rs1312174913
NM_002474.3(MYH11):c.1951C>T (p.Arg651Cys) rs1160451543
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu) rs764831521
NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr) rs1393414333
NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn) rs2041282747
NM_002474.3(MYH11):c.2687T>C (p.Leu896Pro)
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) rs142128375
NM_002474.3(MYH11):c.2888A>G (p.Glu963Gly) rs2151248171
NM_002474.3(MYH11):c.2914G>C (p.Glu972Gln) rs2151248140
NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr) rs2041152851
NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp) rs1451959711
NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val) rs886038854
NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys) rs1057347498
NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu) rs111940956
NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln) rs1473608237
NM_002474.3(MYH11):c.3823C>T (p.Arg1275Trp) rs1182738877
NM_002474.3(MYH11):c.391C>G (p.Leu131Val) rs111247524
NM_002474.3(MYH11):c.397A>G (p.Ile133Val) rs2043468274
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe) rs147127121
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys) rs769202751
NM_002474.3(MYH11):c.530C>T (p.Thr177Ile) rs2042809404
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.5336C>G (p.Thr1779Arg) rs201960644
NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro) rs751495086
NM_002474.3(MYH11):c.5496G>C (p.Gln1832His) rs553162576
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) rs764285909
NM_002474.3(MYH11):c.582C>G (p.Tyr194Ter)
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr) rs764843752
NM_002474.3(MYH11):c.589G>A (p.Val197Met) rs1397436456
NM_002474.3(MYH11):c.70C>G (p.Pro24Ala) rs752441599
NM_002474.3(MYH11):c.754G>A (p.Val252Ile) rs772078130
NM_002474.3(MYH11):c.817C>T (p.Arg273Cys) rs1490228863

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