ClinVar Miner

List of variants in gene MHRT, MYH7 studied for hypertrophic cardiomyopathy

Included ClinVar conditions (244):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4520-63G>A rs3729825 0.19597
NM_000257.4(MYH7):c.4353+17G>A rs45581933 0.01445
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.4520-25C>T rs45503601 0.00787
NM_000257.4(MYH7):c.4644+24G>T rs3729826 0.00312
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.4353+3G>T rs767518107 0.00019
NM_000257.4(MYH7):c.4513C>T (p.Leu1505=) rs139928934 0.00014
NM_000257.4(MYH7):c.4354-6G>A rs368078397 0.00009
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580 0.00007
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.4353+5G>A rs200436876 0.00006
NM_000257.4(MYH7):c.4353+8C>A rs201253277 0.00006
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys) rs876661373 0.00006
NM_000257.4(MYH7):c.4290G>T (p.Val1430=) rs372476972 0.00005
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000257.4(MYH7):c.4347C>T (p.Phe1449=) rs182311329 0.00005
NM_000257.4(MYH7):c.4519+6C>T rs370779504 0.00005
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.4458C>T (p.Asn1486=) rs571704020 0.00004
NM_000257.4(MYH7):c.4520-15G>A rs200886528 0.00004
NM_000257.4(MYH7):c.4605C>T (p.Ala1535=) rs746261895 0.00004
NM_000257.4(MYH7):c.4354-20T>A rs1466706878 0.00003
NM_000257.4(MYH7):c.4389G>A (p.Ser1463=) rs781203524 0.00002
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647 0.00002
NM_000257.4(MYH7):c.4500G>A (p.Arg1500=) rs199995198 0.00002
NM_000257.4(MYH7):c.4520-11T>C rs778736821 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.4558G>A (p.Gly1520Arg) rs763683589 0.00002
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) rs376854724 0.00002
NM_000257.4(MYH7):c.4301G>A (p.Arg1434His) rs780625785 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=) rs727503243 0.00001
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile) rs753484341 0.00001
NM_000257.4(MYH7):c.4353+11G>T rs764167288 0.00001
NM_000257.4(MYH7):c.4353+20C>T rs199912646 0.00001
NM_000257.4(MYH7):c.4353+6C>T rs765398896 0.00001
NM_000257.4(MYH7):c.4354-16C>T rs1401010130 0.00001
NM_000257.4(MYH7):c.4364A>G (p.Glu1455Gly) rs771377530 0.00001
NM_000257.4(MYH7):c.4373A>G (p.Gln1458Arg) rs772562745 0.00001
NM_000257.4(MYH7):c.4388C>T (p.Ser1463Leu) rs890401818 0.00001
NM_000257.4(MYH7):c.4394C>T (p.Ser1465Leu) rs1033511138 0.00001
NM_000257.4(MYH7):c.4424G>A (p.Arg1475His) rs1176998293 0.00001
NM_000257.4(MYH7):c.4435A>G (p.Thr1479Ala) rs752867429 0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) rs1351661186 0.00001
NM_000257.4(MYH7):c.4450C>A (p.Leu1484Ile) rs1555336651 0.00001
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr) rs766909770 0.00001
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu) rs727505329 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser) rs928227757 0.00001
NM_000257.4(MYH7):c.4512C>T (p.Asn1504=) rs1219572407 0.00001
NM_000257.4(MYH7):c.4519+1G>C rs876661374 0.00001
NM_000257.4(MYH7):c.4520-3C>T rs549509054 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4531G>A (p.Asp1511Asn) rs1219074705 0.00001
NM_000257.4(MYH7):c.4572T>C (p.His1524=) rs1246893810 0.00001
NM_000257.4(MYH7):c.4584G>A (p.Lys1528=) rs1892237100 0.00001
NM_000257.4(MYH7):c.4587C>A (p.Val1529=) rs148054271 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4590A>G (p.Arg1530=) rs768723855 0.00001
NM_000257.4(MYH7):c.4644+7G>C rs1555336564 0.00001
NM_000257.4(MYH7):c.4644+9G>T rs755707262 0.00001
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.4264C>A (p.Gln1422Lys)
NM_000257.4(MYH7):c.4270G>A (p.Glu1424Lys) rs730880798
NM_000257.4(MYH7):c.4271A>T (p.Glu1424Val)
NM_000257.4(MYH7):c.4275C>A (p.Ile1425=) rs57680382
NM_000257.4(MYH7):c.4275C>T (p.Ile1425=) rs57680382
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4278G>A (p.Glu1426=) rs763144369
NM_000257.4(MYH7):c.4279G>T (p.Asp1427Tyr)
NM_000257.4(MYH7):c.4286T>C (p.Met1429Thr)
NM_000257.4(MYH7):c.4286TGG[1] (p.Val1430del) rs1555336747
NM_000257.4(MYH7):c.4292A>G (p.Asp1431Gly) rs776921449
NM_000257.4(MYH7):c.4300C>G (p.Arg1434Gly) rs730880800
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4301G>C (p.Arg1434Pro) rs780625785
NM_000257.4(MYH7):c.4301G>T (p.Arg1434Leu)
NM_000257.4(MYH7):c.4302C>T (p.Arg1434=) rs900405502
NM_000257.4(MYH7):c.4306A>G (p.Asn1436Asp) rs1892272742
NM_000257.4(MYH7):c.4307A>G (p.Asn1436Ser) rs1489767429
NM_000257.4(MYH7):c.4308T>C (p.Asn1436=) rs1892272545
NM_000257.4(MYH7):c.4308TGC[5] (p.Ala1441dup) rs1892272029
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.4311T>G (p.Ala1437=)
NM_000257.4(MYH7):c.4312G>C (p.Ala1438Pro)
NM_000257.4(MYH7):c.4314T>C (p.Ala1438=) rs1595075231
NM_000257.4(MYH7):c.4317T>C (p.Ala1439=)
NM_000257.4(MYH7):c.4320A>C (p.Ala1440=)
NM_000257.4(MYH7):c.4320A>G (p.Ala1440=)
NM_000257.4(MYH7):c.4323C>A (p.Ala1441=) rs778364300
NM_000257.4(MYH7):c.4325T>C (p.Leu1442Pro) rs2138646429
NM_000257.4(MYH7):c.4326G>C (p.Leu1442=)
NM_000257.4(MYH7):c.4327G>C (p.Asp1443His) rs2138646412
NM_000257.4(MYH7):c.4330AAG[1] (p.Lys1445del)
NM_000257.4(MYH7):c.4332G>A (p.Lys1444=) rs1064797183
NM_000257.4(MYH7):c.4335G>A (p.Lys1445=) rs1892271096
NM_000257.4(MYH7):c.4343A>G (p.Asn1448Ser) rs753484341
NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu) rs182311329
NM_000257.4(MYH7):c.4352A>C (p.Lys1451Thr)
NM_000257.4(MYH7):c.4353+12G>A
NM_000257.4(MYH7):c.4353+16G>A
NM_000257.4(MYH7):c.4353+18G>T rs2854800
NM_000257.4(MYH7):c.4353+18del rs2138646248
NM_000257.4(MYH7):c.4353+20_4353+29del
NM_000257.4(MYH7):c.4353+20del
NM_000257.4(MYH7):c.4353+7C>T
NM_000257.4(MYH7):c.4354-10C>G rs543141581
NM_000257.4(MYH7):c.4354-10C>T rs543141581
NM_000257.4(MYH7):c.4354-4G>A
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.4357C>G (p.Leu1453Val)
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) rs1246272841
NM_000257.4(MYH7):c.4362C>T (p.Ala1454=) rs727505281
NM_000257.4(MYH7):c.4371G>C (p.Lys1457Asn) rs1555336697
NM_000257.4(MYH7):c.4372C>G (p.Gln1458Glu)
NM_000257.4(MYH7):c.4377G>A (p.Lys1459=) rs201307101
NM_000257.4(MYH7):c.4379A>G (p.Tyr1460Cys)
NM_000257.4(MYH7):c.4380T>C (p.Tyr1460=)
NM_000257.4(MYH7):c.4381G>A (p.Glu1461Lys) rs2138645640
NM_000257.4(MYH7):c.4382A>G (p.Glu1461Gly) rs995126992
NM_000257.4(MYH7):c.4384G>A (p.Glu1462Lys) rs1892258263
NM_000257.4(MYH7):c.4389G>T (p.Ser1463=) rs781203524
NM_000257.4(MYH7):c.4392G>A (p.Gln1464=) rs1306601682
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4396G>T (p.Glu1466Ter)
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4404G>A (p.Glu1468=)
NM_000257.4(MYH7):c.4407C>T (p.Ser1469=) rs1428752523
NM_000257.4(MYH7):c.4409C>T (p.Ser1470Leu) rs1468116782
NM_000257.4(MYH7):c.4410G>T (p.Ser1470=)
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter) rs397516216
NM_000257.4(MYH7):c.4414_4416del (p.Lys1472del) rs1555336672
NM_000257.4(MYH7):c.4419G>A (p.Glu1473=) rs1892255907
NM_000257.4(MYH7):c.4420G>C (p.Ala1474Pro)
NM_000257.4(MYH7):c.4424G>C (p.Arg1475Pro)
NM_000257.4(MYH7):c.4427C>T (p.Ser1476Phe) rs1566525169
NM_000257.4(MYH7):c.4429C>A (p.Leu1477Ile) rs1892255625
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) rs1595074765
NM_000257.4(MYH7):c.4453A>C (p.Lys1485Gln)
NM_000257.4(MYH7):c.4454A>G (p.Lys1485Arg) rs1566525134
NM_000257.4(MYH7):c.4459G>T (p.Ala1487Ser) rs766909770
NM_000257.4(MYH7):c.4460C>T (p.Ala1487Val) rs1595074732
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=) rs2138645345
NM_000257.4(MYH7):c.4464T>C (p.Tyr1488=)
NM_000257.4(MYH7):c.4465G>A (p.Glu1489Lys)
NM_000257.4(MYH7):c.4465GAG[3] (p.Glu1490dup) rs1566525106
NM_000257.4(MYH7):c.4466A>G (p.Glu1489Gly)
NM_000257.4(MYH7):c.4467G>C (p.Glu1489Asp) rs1892253421
NM_000257.4(MYH7):c.4475T>C (p.Leu1492Pro) rs1892252730
NM_000257.4(MYH7):c.4476G>A (p.Leu1492=)
NM_000257.4(MYH7):c.4477G>T (p.Glu1493Ter) rs2138645254
NM_000257.4(MYH7):c.4484T>C (p.Leu1495Pro) rs1566525081
NM_000257.4(MYH7):c.4486G>A (p.Glu1496Lys)
NM_000257.4(MYH7):c.4491C>T (p.Thr1497=)
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr) rs2138645175
NM_000257.4(MYH7):c.4498C>A (p.Arg1500=) rs45544633
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) rs121913647
NM_000257.4(MYH7):c.4506del (p.Asn1502fs) rs2138645134
NM_000257.4(MYH7):c.4515G>A (p.Leu1505=) rs397516219
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=) rs397516219
NM_000257.4(MYH7):c.4519+12G>T
NM_000257.4(MYH7):c.4519+16A>C
NM_000257.4(MYH7):c.4519+3G>T rs1566525012
NM_000257.4(MYH7):c.4519+8G>A rs2138645069
NM_000257.4(MYH7):c.4519+9G>C rs2138645065
NM_000257.4(MYH7):c.4520-12T>C
NM_000257.4(MYH7):c.4520-16C>T
NM_000257.4(MYH7):c.4520-17C>T
NM_000257.4(MYH7):c.4520-1G>T rs730880801
NM_000257.4(MYH7):c.4520-2del rs2138644623
NM_000257.4(MYH7):c.4520-4A>G
NM_000257.4(MYH7):c.4520-5C>T
NM_000257.4(MYH7):c.4521G>C (p.Glu1507Asp)
NM_000257.4(MYH7):c.4524G>A (p.Glu1508=)
NM_000257.4(MYH7):c.4526T>A (p.Ile1509Asn) rs2138644579
NM_000257.4(MYH7):c.4532A>T (p.Asp1511Val) rs730880802
NM_000257.4(MYH7):c.4536G>A (p.Leu1512=) rs780259714
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser) rs397516222
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly) rs1351712658
NM_000257.4(MYH7):c.4542G>A (p.Glu1514=) rs750753882
NM_000257.4(MYH7):c.4543C>A (p.Gln1515Lys)
NM_000257.4(MYH7):c.4543C>G (p.Gln1515Glu) rs1892239000
NM_000257.4(MYH7):c.4545G>A (p.Gln1515=) rs765697662
NM_000257.4(MYH7):c.4551T>C (p.Gly1517=) rs1892238660
NM_000257.4(MYH7):c.4553C>A (p.Ser1518Tyr) rs757809347
NM_000257.4(MYH7):c.4559G>T (p.Gly1520Val)
NM_000257.4(MYH7):c.4562A>G (p.Lys1521Arg) rs1892238144
NM_000257.4(MYH7):c.4564A>G (p.Thr1522Ala)
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val) rs1555336580
NM_000257.4(MYH7):c.4571A>C (p.His1524Pro) rs767148171
NM_000257.4(MYH7):c.4571A>G (p.His1524Arg) rs767148171
NM_000257.4(MYH7):c.4581G>A (p.Glu1527=) rs2138644369
NM_000257.4(MYH7):c.4588C>A (p.Arg1530=)
NM_000257.4(MYH7):c.4589G>A (p.Arg1530Gln) rs730880803
NM_000257.4(MYH7):c.4593G>A (p.Lys1531=) rs747037455
NM_000257.4(MYH7):c.4598T>C (p.Leu1533Pro)
NM_000257.4(MYH7):c.4611G>T (p.Lys1537Asn) rs1892235698
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro) rs587779389
NM_000257.4(MYH7):c.4622A>T (p.Gln1541Leu) rs587779389
NM_000257.4(MYH7):c.4626A>C (p.Ser1542=)
NM_000257.4(MYH7):c.4628C>T (p.Ala1543Val) rs1892235051
NM_000257.4(MYH7):c.4629C>A (p.Ala1543=) rs1892234964
NM_000257.4(MYH7):c.4630C>A (p.Leu1544Met) rs1595074238
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro) rs1892234748
NM_000257.4(MYH7):c.4635G>A (p.Glu1545=) rs1595074236
NM_000257.4(MYH7):c.4637A>G (p.Glu1546Gly)
NM_000257.4(MYH7):c.4639G>A (p.Ala1547Thr) rs2138644219
NM_000257.4(MYH7):c.4642G>A (p.Glu1548Lys)
NM_000257.4(MYH7):c.4643A>C (p.Glu1548Ala) rs730880804
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val) rs730880804
NM_000257.4(MYH7):c.4644+11G>C
NM_000257.4(MYH7):c.4644+11_4644+12delinsAG
NM_000257.4(MYH7):c.4644+15A>C rs2138644080
NM_000257.4(MYH7):c.4644+2TG[7] rs143276274
NM_000257.4(MYH7):c.4644+5G>C rs730880797
NM_000257.4(MYH7):c.4644+5G>T
NM_000257.4(MYH7):c.4644+8T>C

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