ClinVar Miner

List of variants in gene MYH7 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 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.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser) rs367546859 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2862C>T (p.Ile954=) rs982198020 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His) rs730880905 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1547A>G (p.Asp516Gly) rs1595086171
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) rs727504237
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1750G>T (p.Gly584Cys) rs121913626
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) rs397516166
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3376C>T (p.Arg1126Cys) rs767561318
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.3577C>T (p.Arg1193Cys) rs886039090
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp) rs1555337102
NM_000257.4(MYH7):c.3676C>G (p.Leu1226Val) rs876661211
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.5616G>T (p.Gln1872His) rs1356446816
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.803T>G (p.Leu268Arg) rs1555338582
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu) rs771522982

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