ClinVar Miner

List of variants in gene MYH6 reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.2430-14C>T rs190342289 0.00108
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002471.4(MYH6):c.4359+8A>C rs188675676 0.00031
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_002471.4(MYH6):c.4359+10G>A rs368183862 0.00024
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys) rs201827489 0.00022
NM_002471.4(MYH6):c.1875C>T (p.Tyr625=) rs146591697 0.00019
NM_002471.4(MYH6):c.2841C>T (p.Asp947=) rs140305424 0.00019
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002471.4(MYH6):c.3979-13C>A rs563648655 0.00013
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00010
NM_002471.4(MYH6):c.1485C>T (p.Phe495=) rs181613656 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002471.4(MYH6):c.939C>T (p.Phe313=) rs372589578 0.00007
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=) rs529676901 0.00006
NM_002471.4(MYH6):c.5292C>T (p.Ala1764=) rs753745013 0.00006
NM_002471.4(MYH6):c.1381C>T (p.Leu461=) rs368609214 0.00004
NM_002471.4(MYH6):c.2532C>T (p.Ser844=) rs756736352 0.00004
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00003
NM_002471.4(MYH6):c.4299C>T (p.Asp1433=) rs765006624 0.00001
NM_002471.4(MYH6):c.1614G>A (p.Glu538=) rs1566513171
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser) rs1891315952
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC rs796876119
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=) rs141062252

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