ClinVar Miner

List of variants in gene MYH7 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe) rs767300277 0.00006
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr) rs397516275 0.00006
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.211G>A (p.Val71Met) rs730880830 0.00004
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln) rs371855540 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His) rs397516178 0.00003
NM_000257.4(MYH7):c.3337-10G>A rs397516181 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000257.4(MYH7):c.737A>G (p.Lys246Arg) rs730880851 0.00003
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.154G>A (p.Val52Met) rs730880919 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln) rs727504342 0.00002
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His) rs397516194 0.00002
NM_000257.4(MYH7):c.3854-5C>T rs752385694 0.00002
NM_000257.4(MYH7):c.4052C>T (p.Thr1351Met) rs370403289 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His) rs757803046 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000257.4(MYH7):c.-8G>A rs45556042 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.184G>A (p.Glu62Lys) rs727504416 0.00001
NM_000257.4(MYH7):c.2846A>T (p.Glu949Val) rs397516175 0.00001
NM_000257.4(MYH7):c.2855G>C (p.Arg952Thr) rs1446444428 0.00001
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=) rs1216521596 0.00001
NM_000257.4(MYH7):c.3245+2T>G rs113859723 0.00001
NM_000257.4(MYH7):c.3245+3A>T rs727505355 0.00001
NM_000257.4(MYH7):c.3274G>A (p.Ala1092Thr) rs772216320 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val) rs397516184 0.00001
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr) rs759231966 0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195 0.00001
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=) rs1424491117 0.00001
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu) rs397516199 0.00001
NM_000257.4(MYH7):c.4021G>A (p.Asp1341Asn) rs746724436 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.530+1G>A rs112447523 0.00001
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile) rs752930302 0.00001
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg) rs730880156 0.00001
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys) rs397516245 0.00001
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp) rs748598020 0.00001
NM_000257.4(MYH7):c.5387G>A (p.Arg1796Gln) rs1433063251 0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_000257.4(MYH7):c.5450C>T (p.Ala1817Val) rs1469786429 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5656-8T>G rs397516251 0.00001
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr) rs747451109 0.00001
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe) rs397516255 0.00001
NM_000257.4(MYH7):c.5757G>C (p.Lys1919Asn) rs1343372308 0.00001
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr) rs773456019 0.00001
NM_000257.4(MYH7):c.-7C>A rs876657890
NM_000257.4(MYH7):c.1003G>T (p.Ala335Ser) rs727503272
NM_000257.4(MYH7):c.1071G>A (p.Met357Ile)
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro) rs397516090
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn) rs397516093
NM_000257.4(MYH7):c.1203C>A (p.His401Gln) rs1892824991
NM_000257.4(MYH7):c.1235C>A (p.Thr412Asn)
NM_000257.4(MYH7):c.136T>A (p.Phe46Ile) rs1893036458
NM_000257.4(MYH7):c.1370T>G (p.Ile457Arg) rs397516103
NM_000257.4(MYH7):c.137T>G (p.Phe46Cys) rs397516104
NM_000257.4(MYH7):c.1395C>G (p.Phe465Leu) rs45508293
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) rs727504336
NM_000257.4(MYH7):c.1514G>T (p.Gly505Val) rs397516109
NM_000257.4(MYH7):c.1579C>T (p.Pro527Ser) rs1437377039
NM_000257.4(MYH7):c.158C>A (p.Ser53Tyr) rs1893034734
NM_000257.4(MYH7):c.161G>T (p.Arg54Leu) rs397516117
NM_000257.4(MYH7):c.1647G>T (p.Lys549Asn) rs2138672472
NM_000257.4(MYH7):c.1651A>C (p.Lys551Gln) rs1566534156
NM_000257.4(MYH7):c.1704T>A (p.Asn568Lys)
NM_000257.4(MYH7):c.1763ACA[1] (p.Asn589del)
NM_000257.4(MYH7):c.1788G>C (p.Lys596Asn) rs606231325
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys) rs727504291
NM_000257.4(MYH7):c.1909A>G (p.Lys637Glu) rs2138671179
NM_000257.4(MYH7):c.1911G>T (p.Lys637Asn) rs1892730403
NM_000257.4(MYH7):c.1956+1G>A rs1555338074
NM_000257.4(MYH7):c.1970A>T (p.Lys657Met) rs1064793204
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2045-5C>A
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2213G>A (p.Ser738Asn) rs730880894
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro) rs876657879
NM_000257.4(MYH7):c.225G>A (p.Gln75=) rs1595091114
NM_000257.4(MYH7):c.2286+10G>A rs1892665943
NM_000257.4(MYH7):c.2680G>A (p.Glu894Lys) rs2138664054
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
NM_000257.4(MYH7):c.271_276del (p.Ala91_Met92del) rs1893017067
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr) rs1566530777
NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) rs202097576
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.2872G>A (p.Glu958Lys) rs2138663362
NM_000257.4(MYH7):c.28G>A (p.Gly10Arg) rs199577321
NM_000257.4(MYH7):c.3016G>A (p.Ala1006Thr) rs1892572179
NM_000257.4(MYH7):c.3065A>T (p.Lys1022Met)
NM_000257.4(MYH7):c.3128A>G (p.Lys1043Arg) rs1892505925
NM_000257.4(MYH7):c.3130G>A (p.Val1044Met)
NM_000257.4(MYH7):c.3136A>G (p.Met1046Val) rs1566529310
NM_000257.4(MYH7):c.3137T>C (p.Met1046Thr) rs763760498
NM_000257.4(MYH7):c.3149G>A (p.Arg1050Gln) rs759579652
NM_000257.4(MYH7):c.3154A>G (p.Lys1052Glu) rs1566529274
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.3337-64A>C rs1892426856
NM_000257.4(MYH7):c.3349G>A (p.Glu1117Lys) rs141735183
NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys) rs863225098
NM_000257.4(MYH7):c.3373G>A (p.Glu1125Lys) rs730880904
NM_000257.4(MYH7):c.3373G>C (p.Glu1125Gln) rs730880904
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.3740del (p.Lys1247fs) rs1384488225
NM_000257.4(MYH7):c.3749G>C (p.Arg1250Pro) rs540263945
NM_000257.4(MYH7):c.3788C>A (p.Ala1263Glu) rs758889483
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000257.4(MYH7):c.3973-8dup rs762851416
NM_000257.4(MYH7):c.4025T>G (p.Leu1342Arg)
NM_000257.4(MYH7):c.4045G>A (p.Glu1349Lys) rs1566526272
NM_000257.4(MYH7):c.4081C>A (p.Leu1361Ile) rs2138648744
NM_000257.4(MYH7):c.4084T>C (p.Ser1362Pro) rs112771600
NM_000257.4(MYH7):c.4106C>G (p.Ala1369Gly) rs1595076182
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4136C>A (p.Ala1379Asp) rs397516203
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4187G>T (p.Arg1396Leu) rs370069461
NM_000257.4(MYH7):c.4203G>T (p.Glu1401Asp) rs774351170
NM_000257.4(MYH7):c.4207G>T (p.Ala1403Ser) rs2138646882
NM_000257.4(MYH7):c.4250C>T (p.Thr1417Ile) rs1057524383
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5420del (p.Gly1807fs)
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5704G>A (p.Glu1902Lys) rs187073962
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp) rs146796870
NM_000257.4(MYH7):c.5734A>T (p.Ile1912Phe) rs1396486231
NM_000257.4(MYH7):c.5771G>T (p.Ser1924Ile) rs786204385
NM_000257.4(MYH7):c.5790+9C>G rs1057521992
NM_000257.4(MYH7):c.728G>T (p.Arg243Leu) rs267606910
NM_000257.4(MYH7):c.908T>G (p.Ile303Ser) rs1892892489
NM_000257.4(MYH7):c.934T>G (p.Phe312Val) rs761284960

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