ClinVar Miner

List of variants in gene MYH6 studied for Cardiomyopathy

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Total variants: 117
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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.999C>T (p.Thr333=) rs78107039 0.03596
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.3627C>T (p.Ile1209=) rs147871745 0.00930
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.2579G>A (p.Arg860His) rs115845031 0.00573
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.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
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.4320T>A (p.Ala1440=) rs145566711 0.00189
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.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002471.4(MYH6):c.3303G>A (p.Val1101=) rs143825034 0.00095
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.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
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+5A>G rs193283041 0.00031
NM_002471.4(MYH6):c.4359+8A>C rs188675676 0.00031
NM_002471.4(MYH6):c.4611G>A (p.Val1537=) rs142983918 0.00030
NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile) rs201016285 0.00029
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.2685+10C>T rs202155137 0.00024
NM_002471.4(MYH6):c.4359+10G>A rs368183862 0.00024
NM_002471.4(MYH6):c.2430-4C>A rs376527296 0.00023
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) rs376002621 0.00021
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002471.4(MYH6):c.5514G>T (p.Ser1838=) rs727503232 0.00010
NM_002471.4(MYH6):c.1935C>T (p.Ser645=) rs142393002 0.00009
NM_002471.4(MYH6):c.3178G>A (p.Asp1060Asn) rs775560235 0.00008
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe) rs138127105 0.00008
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp) rs372736126 0.00007
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=) rs529676901 0.00006
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg) rs750886219 0.00005
NM_002471.4(MYH6):c.2612G>A (p.Arg871His) rs869025473 0.00004
NM_002471.4(MYH6):c.3569C>T (p.Thr1190Ile) rs759117852 0.00004
NM_002471.4(MYH6):c.4164C>T (p.Leu1388=) rs201379347 0.00004
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002471.4(MYH6):c.4140C>T (p.Asp1380=) rs199672166 0.00003
NM_002471.4(MYH6):c.3154C>T (p.Arg1052Ter) rs532606047 0.00002
NM_002471.4(MYH6):c.3576G>A (p.Ala1192=) rs762573185 0.00002
NM_002471.4(MYH6):c.5439G>A (p.Gln1813=) rs200854143 0.00002
NM_002471.4(MYH6):c.693C>T (p.Phe231=) rs772154148 0.00002
NM_002471.4(MYH6):c.933C>T (p.Tyr311=) rs371728824 0.00002
NM_002471.4(MYH6):c.1200G>A (p.Leu400=) rs765041539 0.00001
NM_002471.4(MYH6):c.1486G>A (p.Val496Met) rs761085263 0.00001
NM_002471.4(MYH6):c.2828G>A (p.Arg943His) rs766640013 0.00001
NM_002471.4(MYH6):c.3513C>T (p.Ala1171=) rs773749966 0.00001
NM_002471.4(MYH6):c.4176-6G>T rs760780588 0.00001
NM_002471.4(MYH6):c.4299C>T (p.Asp1433=) rs765006624 0.00001
NM_002471.4(MYH6):c.4465G>A (p.Ala1489Thr) rs761539900 0.00001
NM_002471.4(MYH6):c.5445G>A (p.Gln1815=) rs979327556 0.00001
NM_002471.4(MYH6):c.5508A>G (p.Ala1836=) rs193922654 0.00001
NM_002471.4(MYH6):c.899-9C>T rs767945761 0.00001
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1065A>C (p.Gly355=) rs2138615175
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.1196G>A (p.Gly399Glu)
NM_002471.4(MYH6):c.1399G>T (p.Glu467Ter) rs778808038
NM_002471.4(MYH6):c.1892-10C>T rs1322705042
NM_002471.4(MYH6):c.2419G>C (p.Val807Leu)
NM_002471.4(MYH6):c.2538G>A (p.Glu846=) rs730880150
NM_002471.4(MYH6):c.2575G>A (p.Gly859Arg) rs369274077
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.2806G>A (p.Ala936Thr) rs141704264
NM_002471.4(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln) rs543585784
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg) rs564367705
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3682C>T (p.Leu1228=) rs1033363939
NM_002471.4(MYH6):c.3844C>G (p.Leu1282Val) rs1425090608
NM_002471.4(MYH6):c.3979-10C>A rs28730768
NM_002471.4(MYH6):c.3979-10C>T rs28730768
NM_002471.4(MYH6):c.3979-7T>C rs535111647
NM_002471.4(MYH6):c.3979-7_3979-4del rs745326238
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.3979-7_3979-6del rs796313537
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9C>A rs57660219
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002471.4(MYH6):c.3979-9_3979-8del rs193922652
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys) rs769398160
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.4(MYH6):c.5407G>A (p.Glu1803Lys)
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) rs878854502
NM_002471.4(MYH6):c.5566-2A>C rs763818508
NM_002471.4(MYH6):c.5748G>C (p.Glu1916Asp) rs1566503504
NM_002471.4(MYH6):c.736-1G>A rs915107695

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