ClinVar Miner

List of variants reported as likely benign for Hypertrophic cardiomyopathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01847
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01334
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01316
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01223
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_000257.4(MYH7):c.-36C>T rs45497293 0.01065
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00877
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00141
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00093
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val) rs146497334 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile) rs144129296 0.00048
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00036
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00031
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313 0.00030
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=) rs147099889 0.00027
NM_033118.4(MYLK2):c.473+11C>T rs373880854 0.00027
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00027
NM_033118.4(MYLK2):c.902C>A (p.Thr301Asn) rs587782968 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932 0.00016
NM_033118.4(MYLK2):c.381G>A (p.Arg127=) rs141524173 0.00013
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu) rs201134349 0.00012
NM_033118.4(MYLK2):c.828C>T (p.Thr276=) rs370429139 0.00011
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=) rs374233822 0.00010
NM_033118.4(MYLK2):c.1225-20G>T rs368839195 0.00009
NM_033118.4(MYLK2):c.1605C>T (p.Leu535=) rs780842075 0.00009
NM_033118.4(MYLK2):c.261G>A (p.Ala87=) rs374353729 0.00009
NM_033118.4(MYLK2):c.288C>T (p.Ala96=) rs371130292 0.00009
NM_033118.4(MYLK2):c.987G>A (p.Leu329=) rs200155693 0.00009
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00008
NM_033118.4(MYLK2):c.1105G>A (p.Glu369Lys) rs371807668 0.00007
NM_033118.4(MYLK2):c.1295+12G>C rs191338438 0.00007
NM_033118.4(MYLK2):c.282G>A (p.Pro94=) rs200710399 0.00007
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_033118.4(MYLK2):c.105C>T (p.Asp35=) rs551492045 0.00006
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) rs779637525 0.00006
NM_033118.4(MYLK2):c.1356G>A (p.Glu452=) rs147329431 0.00006
NM_033118.4(MYLK2):c.1479C>T (p.Asn493=) rs141415487 0.00006
NM_033118.4(MYLK2):c.331C>T (p.Pro111Ser) rs750548324 0.00006
NM_033118.4(MYLK2):c.1377C>A (p.Ile459=) rs751829959 0.00004
NM_033118.4(MYLK2):c.1401T>C (p.Ser467=) rs770625966 0.00004
NM_033118.4(MYLK2):c.1731C>T (p.Ser577=) rs772804572 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033118.4(MYLK2):c.507C>T (p.Ser169=) rs374538348 0.00004
NM_033118.4(MYLK2):c.714C>T (p.Ser238=) rs374323310 0.00004
NM_033118.4(MYLK2):c.1047C>T (p.Ile349=) rs751038976 0.00003
NM_033118.4(MYLK2):c.1225-14C>A rs759607876 0.00003
NM_033118.4(MYLK2):c.1248C>T (p.Asn416=) rs138459623 0.00003
NM_033118.4(MYLK2):c.1254C>T (p.Thr418=) rs575681305 0.00003
NM_033118.4(MYLK2):c.135G>A (p.Pro45=) rs370435116 0.00003
NM_033118.4(MYLK2):c.1380C>T (p.Ser460=) rs777799897 0.00003
NM_033118.4(MYLK2):c.1524C>T (p.Ala508=) rs377328892 0.00003
NM_033118.4(MYLK2):c.1533C>T (p.Asp511=) rs201144061 0.00003
NM_033118.4(MYLK2):c.1632G>A (p.Ala544=) rs772321212 0.00003
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr) rs727503306 0.00003
NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile) rs747109352 0.00003
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00003
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_033118.4(MYLK2):c.1082+10C>T rs770363702 0.00002
NM_033118.4(MYLK2):c.1083-4A>G rs369435472 0.00002
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=) rs727503305 0.00002
NM_033118.4(MYLK2):c.1424+13G>A rs371900250 0.00002
NM_033118.4(MYLK2):c.1424+15G>A rs762322372 0.00002
NM_033118.4(MYLK2):c.1424+20G>A rs375290219 0.00002
NM_033118.4(MYLK2):c.1578-17T>C rs892663559 0.00002
NM_033118.4(MYLK2):c.258C>T (p.Pro86=) rs149280577 0.00002
NM_033118.4(MYLK2):c.474-7C>T rs773417120 0.00002
NM_033118.4(MYLK2):c.519G>A (p.Glu173=) rs560186994 0.00002
NM_033118.4(MYLK2):c.53-20G>A rs774881101 0.00002
NM_033118.4(MYLK2):c.669C>T (p.Asp223=) rs2123128080 0.00002
NM_033118.4(MYLK2):c.870G>A (p.Ala290=) rs1037625331 0.00002
NM_033118.4(MYLK2):c.891G>A (p.Gly297=) rs886056578 0.00002
NM_033118.4(MYLK2):c.933G>C (p.Leu311=) rs146745888 0.00002
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_033118.4(MYLK2):c.1020C>T (p.Arg340=) rs1331155233 0.00001
NM_033118.4(MYLK2):c.1035G>C (p.Leu345=) rs150285652 0.00001
NM_033118.4(MYLK2):c.1080G>A (p.Glu360=) rs977115591 0.00001
NM_033118.4(MYLK2):c.1082+19G>A rs745498112 0.00001
NM_033118.4(MYLK2):c.1083-8G>A rs940139089 0.00001
NM_033118.4(MYLK2):c.1086C>T (p.Ile362=) rs188352991 0.00001
NM_033118.4(MYLK2):c.1092C>T (p.Gly364=) rs745574239 0.00001
NM_033118.4(MYLK2):c.1137C>T (p.Thr379=) rs759608229 0.00001
NM_033118.4(MYLK2):c.1161C>G (p.Val387=) rs1251847749 0.00001
NM_033118.4(MYLK2):c.1194C>T (p.His398=) rs767402714 0.00001
NM_033118.4(MYLK2):c.1203G>A (p.Arg401=) rs755594011 0.00001
NM_033118.4(MYLK2):c.1227A>G (p.Pro409=) rs1297500199 0.00001
NM_033118.4(MYLK2):c.1233C>T (p.Asn411=) rs200963586 0.00001
NM_033118.4(MYLK2):c.1296-13G>A rs759181721 0.00001
NM_033118.4(MYLK2):c.1314G>A (p.Lys438=) rs990954469 0.00001
NM_033118.4(MYLK2):c.1410G>A (p.Val470=) rs1489644054 0.00001
NM_033118.4(MYLK2):c.1424+19C>T rs549728739 0.00001
NM_033118.4(MYLK2):c.1425-10C>T rs759832182 0.00001
NM_033118.4(MYLK2):c.1425-12C>T rs774113479 0.00001
NM_033118.4(MYLK2):c.1425-5T>C rs763149471 0.00001
NM_033118.4(MYLK2):c.1425-6C>T rs200234935 0.00001
NM_033118.4(MYLK2):c.1446C>T (p.Phe482=) rs1261064039 0.00001
NM_033118.4(MYLK2):c.1515C>T (p.Thr505=) rs930435016 0.00001
NM_033118.4(MYLK2):c.1577+10A>G rs777459815 0.00001
NM_033118.4(MYLK2):c.1577+17A>G rs2062308168 0.00001
NM_033118.4(MYLK2):c.1577+20C>G rs1329667381 0.00001
NM_033118.4(MYLK2):c.1577+9C>T rs373252847 0.00001
NM_033118.4(MYLK2):c.1578-16G>A rs765150509 0.00001
NM_033118.4(MYLK2):c.1659C>T (p.Arg553=) rs727504624 0.00001
NM_033118.4(MYLK2):c.1710+8T>C rs1010376413 0.00001
NM_033118.4(MYLK2):c.1740C>T (p.Asn580=) rs1457156628 0.00001
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=) rs758879929 0.00001
NM_033118.4(MYLK2):c.1773G>T (p.Leu591=) rs757802556 0.00001
NM_033118.4(MYLK2):c.1782G>A (p.Leu594=) rs1229893335 0.00001
NM_033118.4(MYLK2):c.189T>C (p.Asp63=) rs1266323436 0.00001
NM_033118.4(MYLK2):c.204A>G (p.Gln68=) rs1240723658 0.00001
NM_033118.4(MYLK2):c.21A>G (p.Ala7=) rs754853086 0.00001
NM_033118.4(MYLK2):c.249C>T (p.Gly83=) rs774383057 0.00001
NM_033118.4(MYLK2):c.267C>T (p.Gly89=) rs757350083 0.00001
NM_033118.4(MYLK2):c.294C>T (p.Pro98=) rs373609417 0.00001
NM_033118.4(MYLK2):c.306G>A (p.Ala102=) rs764441706 0.00001
NM_033118.4(MYLK2):c.312T>C (p.Pro104=) rs202047576 0.00001
NM_033118.4(MYLK2):c.357C>A (p.Gly119=) rs199854237 0.00001
NM_033118.4(MYLK2):c.393G>A (p.Lys131=) rs397517474 0.00001
NM_033118.4(MYLK2):c.399A>G (p.Ala133=) rs1230814435 0.00001
NM_033118.4(MYLK2):c.487C>T (p.Leu163=) rs1328631034 0.00001
NM_033118.4(MYLK2):c.516A>C (p.Ser172=) rs1407512079 0.00001
NM_033118.4(MYLK2):c.52+11G>A rs2062241495 0.00001
NM_033118.4(MYLK2):c.52+13G>C rs777578125 0.00001
NM_033118.4(MYLK2):c.594C>T (p.Asn198=) rs771352528 0.00001
NM_033118.4(MYLK2):c.633C>T (p.Thr211=) rs768001289 0.00001
NM_033118.4(MYLK2):c.675G>A (p.Ser225=) rs753309061 0.00001
NM_033118.4(MYLK2):c.711A>G (p.Lys237=) rs776019860 0.00001
NM_033118.4(MYLK2):c.732C>G (p.Leu244=) rs2123128189 0.00001
NM_033118.4(MYLK2):c.772+18G>C rs773045483 0.00001
NM_033118.4(MYLK2):c.78T>A (p.Gly26=) rs1600406921 0.00001
NM_033118.4(MYLK2):c.792G>A (p.Pro264=) rs752288788 0.00001
NM_033118.4(MYLK2):c.879-13C>T rs367859025 0.00001
NM_033118.4(MYLK2):c.879-19C>A rs769913699 0.00001
NM_033118.4(MYLK2):c.927C>T (p.Leu309=) rs764465707 0.00001
NM_033118.4(MYLK2):c.972+13C>T rs876657524 0.00001
NM_033118.4(MYLK2):c.972+17G>A rs1429941974 0.00001
NM_033118.4(MYLK2):c.972+19T>C rs747697105 0.00001
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_033118.4(MYLK2):c.1056G>A (p.Pro352=) rs370053164
NM_033118.4(MYLK2):c.1056G>T (p.Pro352=) rs370053164
NM_033118.4(MYLK2):c.1083-12C>T
NM_033118.4(MYLK2):c.1083-5C>T rs1600410950
NM_033118.4(MYLK2):c.111C>A (p.Gly37=) rs1389317242
NM_033118.4(MYLK2):c.111C>G (p.Gly37=)
NM_033118.4(MYLK2):c.1137C>A (p.Thr379=) rs759608229
NM_033118.4(MYLK2):c.1170C>T (p.Ile390=) rs2515457220
NM_033118.4(MYLK2):c.1185C>T (p.Leu395=) rs1285227408
NM_033118.4(MYLK2):c.120C>T (p.Asp40=)
NM_033118.4(MYLK2):c.1225-13C>T rs765889473
NM_033118.4(MYLK2):c.1245C>T (p.Val415=) rs1042706370
NM_033118.4(MYLK2):c.126G>A (p.Lys42=) rs2123125859
NM_033118.4(MYLK2):c.1290A>C (p.Ala430=) rs878855174
NM_033118.4(MYLK2):c.1295+9TGGG[2] rs2123139600
NM_033118.4(MYLK2):c.1296-11C>G
NM_033118.4(MYLK2):c.1296-13G>T rs759181721
NM_033118.4(MYLK2):c.1296-9C>A
NM_033118.4(MYLK2):c.1407G>A (p.Gly469=) rs934365518
NM_033118.4(MYLK2):c.1424+6C>T rs2515460451
NM_033118.4(MYLK2):c.1424+8C>T rs2062304481
NM_033118.4(MYLK2):c.1425-10C>G rs759832182
NM_033118.4(MYLK2):c.1425-11C>A rs369886665
NM_033118.4(MYLK2):c.1425-11C>G
NM_033118.4(MYLK2):c.1425-6C>A rs200234935
NM_033118.4(MYLK2):c.1440C>T (p.Ser480=) rs867518927
NM_033118.4(MYLK2):c.1515C>G (p.Thr505=) rs930435016
NM_033118.4(MYLK2):c.1518T>C (p.Phe506=) rs554990560
NM_033118.4(MYLK2):c.156A>G (p.Lys52=) rs2123125914
NM_033118.4(MYLK2):c.1578-11C>T rs370838605
NM_033118.4(MYLK2):c.1578-15C>A rs2123141194
NM_033118.4(MYLK2):c.1647C>G (p.Arg549=)
NM_033118.4(MYLK2):c.1659C>A (p.Arg553=) rs727504624
NM_033118.4(MYLK2):c.1710+14C>T rs775285427
NM_033118.4(MYLK2):c.1710+14_1710+15delinsGG rs2123141528
NM_033118.4(MYLK2):c.1710+15A>T rs6060980
NM_033118.4(MYLK2):c.1710+18G>A rs751494087
NM_033118.4(MYLK2):c.1710+20G>A
NM_033118.4(MYLK2):c.1710+20G>C rs761288375
NM_033118.4(MYLK2):c.1710+20G>T rs761288375
NM_033118.4(MYLK2):c.1711-4C>T rs372190501
NM_033118.4(MYLK2):c.1790G>A (p.Ter597=) rs780313264
NM_033118.4(MYLK2):c.21A>C (p.Ala7=)
NM_033118.4(MYLK2):c.240T>G (p.Gly80=) rs768745988
NM_033118.4(MYLK2):c.249C>A (p.Gly83=) rs774383057
NM_033118.4(MYLK2):c.255G>A (p.Gly85=) rs1267386817
NM_033118.4(MYLK2):c.255G>T (p.Gly85=) rs1267386817
NM_033118.4(MYLK2):c.303T>C (p.Thr101=) rs1555789900
NM_033118.4(MYLK2):c.348A>G (p.Gly116=) rs754876521
NM_033118.4(MYLK2):c.426C>G (p.Gly142=) rs1014407969
NM_033118.4(MYLK2):c.444T>C (p.His148=) rs780660993
NM_033118.4(MYLK2):c.473+17G>C rs772259200
NM_033118.4(MYLK2):c.473+18G>A rs2123126696
NM_033118.4(MYLK2):c.474-10C>T rs772534999
NM_033118.4(MYLK2):c.474-12C>T rs748888630
NM_033118.4(MYLK2):c.474-19_474-18del rs2515452215
NM_033118.4(MYLK2):c.52+19A>G rs1471938352
NM_033118.4(MYLK2):c.52+8G>A rs2515450290
NM_033118.4(MYLK2):c.52+9C>A rs2062241484
NM_033118.4(MYLK2):c.53-20G>T rs774881101
NM_033118.4(MYLK2):c.573C>T (p.Ala191=) rs2515452386
NM_033118.4(MYLK2):c.615G>A (p.Lys205=) rs1568627884
NM_033118.4(MYLK2):c.627G>A (p.Glu209=) rs587781091
NM_033118.4(MYLK2):c.648C>A (p.Gly216=) rs761603914
NM_033118.4(MYLK2):c.666G>A (p.Gly222=) rs2515452501
NM_033118.4(MYLK2):c.75A>G (p.Thr25=) rs1310164094
NM_033118.4(MYLK2):c.772+14A>T rs2062253179
NM_033118.4(MYLK2):c.773-15T>C rs2515454129
NM_033118.4(MYLK2):c.773-19G>T rs914355976
NM_033118.4(MYLK2):c.773-7C>T rs760391320
NM_033118.4(MYLK2):c.792G>C (p.Pro264=) rs752288788
NM_033118.4(MYLK2):c.828C>G (p.Thr276=) rs370429139
NM_033118.4(MYLK2):c.831G>A (p.Gly277=) rs1241162046
NM_033118.4(MYLK2):c.852T>C (p.Ser284=) rs2123130573
NM_033118.4(MYLK2):c.879-16C>G
NM_033118.4(MYLK2):c.957G>A (p.Gln319=) rs2123131710
NM_033118.4(MYLK2):c.963C>T (p.Pro321=) rs756032622
NM_033118.4(MYLK2):c.972+14G>C rs193922713
NM_033118.4(MYLK2):c.973-13C>T rs750724227
NM_033118.4(MYLK2):c.973-4C>T rs2515456840
NM_033118.4(MYLK2):c.981G>C (p.Val327=) rs989421183

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