ClinVar Miner

List of variants in gene combination MYH2, MYHAS reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.-20-217G>A rs7215791 0.87767
NM_017534.6(MYH2):c.5673+64G>A rs7223755 0.51988
NM_017534.6(MYH2):c.5673+141T>C rs7224268 0.51966
NM_017534.6(MYH2):c.324A>G (p.Glu108=) rs12600539 0.42634
NM_017534.6(MYH2):c.1148-98A>G rs2277653 0.40624
NM_017534.6(MYH2):c.3745-84T>C rs12952334 0.40478
NM_017534.6(MYH2):c.3745-154C>A rs9899992 0.40054
NM_017534.6(MYH2):c.3745-274T>C rs12952878 0.39972
NM_017534.6(MYH2):c.904+10G>A rs719277 0.39768
NM_017534.6(MYH2):c.2697+25A>G rs3744565 0.39755
NM_017534.6(MYH2):c.349-177G>A rs11078851 0.39356
NM_017534.6(MYH2):c.505+311T>C rs62060666 0.38931
NM_017534.6(MYH2):c.3263+15A>G rs2277651 0.34231
NM_017534.6(MYH2):c.5674-168A>G rs71360268 0.07456
NM_017534.6(MYH2):c.3872-310C>T rs35941696 0.06310
NM_017534.6(MYH2):c.5673+191T>A rs12937587 0.06305
NM_017534.6(MYH2):c.505+302G>T rs75020870 0.06269
NM_017534.6(MYH2):c.2180+210T>C rs34681441 0.06221
NM_017534.6(MYH2):c.3117+32C>T rs2277652 0.06211
NM_017534.6(MYH2):c.1975-9G>A rs3744566 0.06015
NM_017534.6(MYH2):c.1897+170G>A rs12953213 0.05747
NM_017534.6(MYH2):c.905-212C>T rs71360273 0.05676
NM_017534.6(MYH2):c.2181-51C>T rs71360269 0.05601
NM_017534.6(MYH2):c.5175+217G>A rs12947406 0.05541
NM_017534.6(MYH2):c.1974+77T>C rs3744568 0.05344
NM_017534.6(MYH2):c.2442-206T>C rs79807358 0.05211
NM_017534.6(MYH2):c.905-74C>T rs35760495 0.05153
NM_017534.6(MYH2):c.1975-47A>G rs3744567 0.05149
NM_017534.6(MYH2):c.1974+163T>C rs71360272 0.05140
NM_017534.6(MYH2):c.4187+121G>A rs12950718 0.05053
NM_017534.6(MYH2):c.4187+275C>T rs34499338 0.04719
NM_017534.6(MYH2):c.2181-80A>T rs71360270 0.04294
NM_017534.6(MYH2):c.4188-68G>A rs36082989 0.04289
NM_017534.6(MYH2):c.5176-26T>A rs117415453 0.04100
NM_017534.6(MYH2):c.1416+74A>T rs73974759 0.01630
NM_017534.6(MYH2):c.5176-272C>T rs115404283 0.01505
NM_017534.6(MYH2):c.3872-123G>A rs75608430 0.01300
NM_017534.6(MYH2):c.5674-10T>C rs16943488 0.01300
NM_017534.6(MYH2):c.506-299G>A rs73974760 0.01212
NM_017534.6(MYH2):c.349-82T>C rs139287914 0.01133
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_017534.6(MYH2):c.2697+101A>T rs138017232 0.00863
NM_017534.6(MYH2):c.183G>A (p.Thr61=) rs142539913 0.00745
NM_017534.6(MYH2):c.505+25del rs375322854 0.00681
NM_017534.6(MYH2):c.5577+60T>G rs143769476 0.00666
NM_017534.6(MYH2):c.4188-285T>C rs77361283 0.00565
NM_017534.6(MYH2):c.1897+257T>C rs9903572 0.00558
NM_017534.6(MYH2):c.5673+179A>G rs114087730 0.00557
NM_017534.6(MYH2):c.1898-132T>C rs9903038 0.00550
NM_017534.6(MYH2):c.2382C>A (p.Thr794=) rs76400103 0.00548
NM_017534.6(MYH2):c.4242C>T (p.Asn1414=) rs146615128 0.00548
NM_017534.6(MYH2):c.904+215A>G rs114395943 0.00547
NM_017534.6(MYH2):c.1974+167G>A rs9895977 0.00532
NM_017534.6(MYH2):c.506-26T>C rs9903455 0.00525
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=) rs61739663 0.00465
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_017534.6(MYH2):c.1974+110T>C rs138088239 0.00408
NM_017534.6(MYH2):c.4187+239C>T rs73974757 0.00408
NM_017534.6(MYH2):c.3745-173G>A rs865823276 0.00371
NM_017534.6(MYH2):c.5674-26C>G rs141450971 0.00370
NM_017534.6(MYH2):c.5175+162T>C rs186562411 0.00369
NM_017534.6(MYH2):c.2295G>A (p.Gly765=) rs79757188 0.00317
NM_017534.6(MYH2):c.1417-285T>G rs189072407 0.00280
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_017534.6(MYH2):c.2698-8A>C rs186620412 0.00221
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 0.00123
NM_017534.6(MYH2):c.3048G>A (p.Leu1016=) rs145796634 0.00104
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017534.6(MYH2):c.3354+24C>T rs140621687 0.00091
NM_017534.6(MYH2):c.5472+33G>T rs147243814 0.00091
NM_017534.6(MYH2):c.3308A>T (p.Glu1103Val) rs139295564 0.00085
NM_017534.6(MYH2):c.*51C>A rs2286357 0.00081
NM_017534.6(MYH2):c.1416+40G>C rs143555593 0.00081
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp) rs138206136 0.00053
NM_017534.6(MYH2):c.87T>C (p.Asn29=) rs148217318 0.00050
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.2062+8A>G rs117562194 0.00039
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_017534.6(MYH2):c.878C>T (p.Thr293Ile) rs774544504 0.00031
NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp) rs191102801 0.00029
NM_017534.6(MYH2):c.4258C>T (p.Leu1420Phe) rs187438258 0.00019
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_017534.6(MYH2):c.1729G>A (p.Glu577Lys) rs564509544 0.00018
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met) rs150829316 0.00017
NM_017534.6(MYH2):c.3854G>A (p.Arg1285His) rs148326504 0.00017
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly) rs201784718 0.00016
NM_017534.6(MYH2):c.3029A>G (p.Gln1010Arg) rs148961199 0.00016
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly) rs139212712 0.00013
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys) rs202006788 0.00008
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605 0.00007
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe) rs138265883 0.00006
NM_017534.6(MYH2):c.41C>T (p.Ala14Val) rs770499680 0.00006
NM_017534.6(MYH2):c.4213G>T (p.Ala1405Ser) rs199632177 0.00006
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His) rs781136210 0.00005
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val) rs377385495 0.00005
NM_017534.6(MYH2):c.5580G>A (p.Thr1860=) rs761795343 0.00004
NM_017534.6(MYH2):c.5791C>T (p.Arg1931Trp) rs544066673 0.00004
NM_017534.6(MYH2):c.2378G>A (p.Arg793Gln) rs578188627 0.00003
NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp) rs755265718 0.00003
NM_017534.6(MYH2):c.182C>T (p.Thr61Met) rs145979297 0.00002
NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter) rs545623839 0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 0.00002
NM_017534.6(MYH2):c.326G>A (p.Arg109His) rs1468175087 0.00002
NM_017534.6(MYH2):c.105A>C (p.Lys35Asn) rs774068547 0.00001
NM_017534.6(MYH2):c.151A>G (p.Thr51Ala) rs190103324 0.00001
NM_017534.6(MYH2):c.1975-1G>C rs201082272 0.00001
NM_017534.6(MYH2):c.2468A>G (p.Asn823Ser) rs1378547305 0.00001
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met) rs150566222 0.00001
NM_017534.6(MYH2):c.3176G>A (p.Arg1059Lys) rs371178030 0.00001
NM_017534.6(MYH2):c.3767G>A (p.Arg1256Gln) rs141448415 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_017534.6(MYH2):c.5566C>T (p.Leu1856Phe) rs1488236141 0.00001
NM_017534.6(MYH2):c.5707C>T (p.Arg1903Cys) rs777766586 0.00001
NM_017534.6(MYH2):c.5737G>A (p.Glu1913Lys) rs1350545511 0.00001
NM_017534.6(MYH2):c.-20-260A>T rs62060669
NM_017534.6(MYH2):c.1008+222_1008+223dup rs56139789
NM_017534.6(MYH2):c.1008+222_1008+224dup rs56139789
NM_017534.6(MYH2):c.1008+222dup rs56139789
NM_017534.6(MYH2):c.1008+233_1008+234del rs56139789
NM_017534.6(MYH2):c.1008+234del rs56139789
NM_017534.6(MYH2):c.1068G>C (p.Thr356=) rs116419997
NM_017534.6(MYH2):c.1147+1G>T rs1057518398
NM_017534.6(MYH2):c.121G>A (p.Ala41Thr) rs2142325523
NM_017534.6(MYH2):c.1334G>T (p.Arg445Leu) rs201040489
NM_017534.6(MYH2):c.139T>C (p.Phe47Leu)
NM_017534.6(MYH2):c.1528G>A (p.Glu510Lys) rs772963819
NM_017534.6(MYH2):c.1762G>T (p.Val588Phe) rs1348155208
NM_017534.6(MYH2):c.2181-256C>G rs12938380
NM_017534.6(MYH2):c.2181-294C>G rs9891328
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr) rs1167250510
NM_017534.6(MYH2):c.2329G>T (p.Gly777Trp) rs2142305536
NM_017534.6(MYH2):c.2442-126dup rs11379780
NM_017534.6(MYH2):c.2821G>A (p.Glu941Lys)
NM_017534.6(MYH2):c.2998A>G (p.Lys1000Glu)
NM_017534.6(MYH2):c.304G>A (p.Val102Met) rs1131691454
NM_017534.6(MYH2):c.3212C>T (p.Ser1071Phe) rs2142299853
NM_017534.6(MYH2):c.3238C>T (p.Gln1080Ter) rs1007918379
NM_017534.6(MYH2):c.3355-31A>C rs147207041
NM_017534.6(MYH2):c.3502G>T (p.Glu1168Ter) rs765529429
NM_017534.6(MYH2):c.3635A>G (p.Gln1212Arg) rs1456213666
NM_017534.6(MYH2):c.3720T>A (p.Asn1240Lys)
NM_017534.6(MYH2):c.3739G>A (p.Ala1247Thr)
NM_017534.6(MYH2):c.3744+124dup rs11372676
NM_017534.6(MYH2):c.3744G>C (p.Lys1248Asn)
NM_017534.6(MYH2):c.3745-188_3745-185dup rs71365770
NM_017534.6(MYH2):c.3745-188_3745-186dup rs71365770
NM_017534.6(MYH2):c.388A>G (p.Lys130Glu)
NM_017534.6(MYH2):c.399T>A (p.Pro133=) rs11078850
NM_017534.6(MYH2):c.4027C>T (p.Arg1343Cys) rs145911509
NM_017534.6(MYH2):c.4033G>A (p.Asp1345Asn)
NM_017534.6(MYH2):c.4184C>A (p.Ala1395Asp) rs2142295252
NM_017534.6(MYH2):c.4222G>A (p.Glu1408Lys) rs780588979
NM_017534.6(MYH2):c.491A>C (p.Gln164Pro)
NM_017534.6(MYH2):c.505+313T>C rs62060665
NM_017534.6(MYH2):c.5171C>G (p.Thr1724Ser) rs202050465
NM_017534.6(MYH2):c.5332G>A (p.Glu1778Lys)
NM_017534.6(MYH2):c.5429C>T (p.Ala1810Val)
NM_017534.6(MYH2):c.5594_5597del (p.Lys1865fs) rs1567726515
NM_017534.6(MYH2):c.5674-168AT[11] rs3051834
NM_017534.6(MYH2):c.5674-168AT[12] rs3051834
NM_017534.6(MYH2):c.5674-178GT[8] rs374726017
NM_017534.6(MYH2):c.5749G>A (p.Asp1917Asn) rs1051054791
NM_017534.6(MYH2):c.905-154C>A rs11652345

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