ClinVar Miner

List of variants reported as uncertain significance for Myosin storage myopathy by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=) rs370750044 0.00038
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_000257.4(MYH7):c.1179C>T (p.Ala393=) rs143293426 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000257.4(MYH7):c.4519+6C>T rs370779504 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000257.4(MYH7):c.1368C>T (p.Phe456=) rs766216871 0.00004
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=) rs766561921 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.2868T>C (p.Asp956=) rs140718120 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.4134C>T (p.Asp1378=) rs770630028 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000257.4(MYH7):c.*81G>A rs938515730 0.00001
NM_000257.4(MYH7):c.1000-13G>T rs772831757 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1139-4C>T rs886050422 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr) rs771599539 0.00001
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg) rs1298804415 0.00001
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr) rs1159928168 0.00001
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His) rs200000290 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly) rs730880824 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000257.4(MYH7):c.639+13C>T rs1346778409 0.00001
NM_000257.4(MYH7):c.801T>C (p.Leu267=) rs1171861442 0.00001
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.1138+7G>A rs886050423
NM_000257.4(MYH7):c.1671G>T (p.Leu557=) rs149386750
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2424-7C>T rs759141144
NM_000257.4(MYH7):c.2877G>A (p.Leu959=) rs886039162
NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) rs886050421
NM_000257.4(MYH7):c.2955G>A (p.Leu985=) rs886050420
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=) rs747004925
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=) rs730880767
NM_000257.4(MYH7):c.3558G>A (p.Glu1186=) rs1415340981
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=) rs137918672
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4169+6T>G rs886050417
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln) rs370069461
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) rs730880810
NM_000257.4(MYH7):c.4953+6C>A rs1892187663
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly) rs1892168471
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) rs886050416
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp) rs146796870
NM_000257.4(MYH7):c.5793C>T (p.Gly1931=) rs148420672
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu) rs779190577
NM_000257.4(MYH7):c.895+12C>A rs186276057

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