ClinVar Miner

List of variants in gene MYH7 reported as likely pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906 0.00006
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
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.737A>G (p.Lys246Arg) rs730880851 0.00003
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2134C>T (p.Arg712Cys) rs749007293 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn) rs730880765 0.00001
NM_000257.4(MYH7):c.3341G>A (p.Arg1114His) rs730880773 0.00001
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4238C>T (p.Ser1413Leu) rs730880796 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys) rs773740053 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1052A>C (p.Lys351Thr) rs1555338462
NM_000257.4(MYH7):c.1053G>T (p.Lys351Asn)
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1135G>A (p.Glu379Lys) rs730880866
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) rs727503269
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1315A>G (p.Met439Val) rs370310929
NM_000257.4(MYH7):c.1316T>G (p.Met439Arg) rs730880927
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1350G>C (p.Lys450Asn) rs1555338319
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln) rs4981473
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1478T>C (p.Met493Thr)
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1571T>C (p.Ile524Thr) rs730880929
NM_000257.4(MYH7):c.1615A>G (p.Met539Val) rs730880930
NM_000257.4(MYH7):c.1801C>G (p.Leu601Val) rs1131691685
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.1831A>C (p.Lys611Gln) rs876661200
NM_000257.4(MYH7):c.1833G>T (p.Lys611Asn) rs1393494996
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2018T>G (p.Ile673Ser) rs730880884
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2160G>C (p.Gln720His) rs730880733
NM_000257.4(MYH7):c.2189T>C (p.Ile730Thr) rs1060501448
NM_000257.4(MYH7):c.2198G>T (p.Gly733Val) rs727504241
NM_000257.4(MYH7):c.2212A>T (p.Ser738Cys) rs1064796729
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.4(MYH7):c.2214C>G (p.Ser738Arg) rs1892670575
NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu) rs1057520814
NM_000257.4(MYH7):c.2282C>A (p.Thr761Asn) rs1555337846
NM_000257.4(MYH7):c.2284A>G (p.Lys762Glu)
NM_000257.4(MYH7):c.2696C>A (p.Ala899Glu) rs730880753
NM_000257.4(MYH7):c.2698G>A (p.Asp900Asn) rs730880754
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys) rs730880756
NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln) rs730880758
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) rs1131691514
NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys) rs863225100
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn) rs730880766
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3160A>G (p.Lys1054Glu) rs730880768
NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met) rs730880769
NM_000257.4(MYH7):c.3597C>G (p.Ser1199Arg) rs730880779
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3627C>G (p.Asn1209Lys) rs730880782
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.3705_3716del (p.Met1235_Ile1238del) rs730880890
NM_000257.4(MYH7):c.3812_3823del (p.Asn1271_Thr1274del) rs1555337023
NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del) rs730880934
NM_000257.4(MYH7):c.3991C>G (p.His1331Asp) rs1057517881
NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp) rs730880907
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.442A>C (p.Ser148Arg) rs730880836
NM_000257.4(MYH7):c.485A>G (p.Tyr162Cys) rs1057517771
NM_000257.4(MYH7):c.511A>C (p.Asn171His) rs730880842
NM_000257.4(MYH7):c.5359G>C (p.Glu1787Gln) rs1085308025
NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis) rs876661179
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro) rs730880917
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5659del (p.Glu1887fs) rs730880892
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.649G>C (p.Glu217Gln) rs730880847
NM_000257.4(MYH7):c.706G>T (p.Val236Phe) rs397516261
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.748A>T (p.Ile250Phe) rs397516268
NM_000257.4(MYH7):c.773T>C (p.Leu258Ser) rs876661377
NM_000257.4(MYH7):c.797A>G (p.Tyr266Cys) rs2138680281
NM_000257.4(MYH7):c.799C>A (p.Leu267Ile) rs727504409
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.871T>C (p.Ser291Pro) rs730880857
NM_000257.4(MYH7):c.905T>A (p.Leu302Gln) rs2138679418
NM_000257.4(MYH7):c.964T>A (p.Ser322Thr) rs730880859
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn) rs397516275
NM_000257.4(MYH7):c.979GAG[1] (p.Glu328del) rs2138679149

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