ClinVar Miner

List of variants in gene MYH6 reported as benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771 0.08821
NM_002471.4(MYH6):c.5566-8A>C rs529785746 0.04893
NM_002471.4(MYH6):c.909G>A (p.Leu303=) rs17091623 0.02711
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002471.4(MYH6):c.4359+5A>G rs193283041 0.00031
NM_002471.4(MYH6):c.4359+8A>C rs188675676 0.00031
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys) rs144571463 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=) rs200854143 0.00002
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-7T>C rs535111647
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002471.4(MYH6):c.3979-9_3979-8del rs193922652
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002471.4(MYH6):c.5566-2A>C rs763818508

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