ClinVar Miner

List of variants in gene MYBPC3 reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378 0.00032
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000256.3(MYBPC3):c.1020C>T (p.Tyr340=) rs556616131 0.00014
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000256.3(MYBPC3):c.666C>T (p.Phe222=) rs371331114 0.00012
NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=) rs375467797 0.00010
NM_000256.3(MYBPC3):c.402C>T (p.Pro134=) rs397516046 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_000256.3(MYBPC3):c.1347G>T (p.Val449=) rs539453748 0.00009
NM_000256.3(MYBPC3):c.66C>T (p.Ala22=) rs765986295 0.00008
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932 0.00005
NM_000256.3(MYBPC3):c.1590C>T (p.Ser530=) rs763905291 0.00004
NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=) rs377227442 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.2886G>A (p.Val962=) rs369685402 0.00004
NM_000256.3(MYBPC3):c.630C>T (p.His210=) rs762695516 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755 0.00004
NM_000256.3(MYBPC3):c.1293C>T (p.Asp431=) rs763808974 0.00003
NM_000256.3(MYBPC3):c.1785C>T (p.Ile595=) rs572227730 0.00003
NM_000256.3(MYBPC3):c.2010C>T (p.Asp670=) rs558051480 0.00003
NM_000256.3(MYBPC3):c.2511C>T (p.Ile837=) rs542181308 0.00003
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=) rs754870909 0.00002
NM_000256.3(MYBPC3):c.1173C>T (p.Asp391=) rs377328238 0.00002
NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=) rs200664621 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.75C>T (p.Ser25=) rs1368122828 0.00002
NM_000256.3(MYBPC3):c.1245C>T (p.Ile415=) rs1339802996 0.00001
NM_000256.3(MYBPC3):c.1458-5G>A rs746542705 0.00001
NM_000256.3(MYBPC3):c.2737+10C>T rs1447236020 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.3171G>A (p.Thr1057=) rs397516004 0.00001
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=) rs1565628536
NM_000256.3(MYBPC3):c.1191C>T (p.Leu397=) rs1319991948
NM_000256.3(MYBPC3):c.1224-34C>T
NM_000256.3(MYBPC3):c.1311G>C (p.Val437=) rs1060504240
NM_000256.3(MYBPC3):c.1719T>A (p.Val573=) rs397515921
NM_000256.3(MYBPC3):c.1719T>C (p.Val573=) rs397515921
NM_000256.3(MYBPC3):c.1776G>A (p.Val592=) rs727503196
NM_000256.3(MYBPC3):c.2262G>A (p.Lys754=)
NM_000256.3(MYBPC3):c.2334C>T (p.Pro778=) rs2095884023
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=) rs768638405
NM_000256.3(MYBPC3):c.2685C>T (p.Arg895=) rs1595843026
NM_000256.3(MYBPC3):c.2715C>T (p.Ser905=) rs759920601
NM_000256.3(MYBPC3):c.2766G>C (p.Gly922=)
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=) rs2095880876
NM_000256.3(MYBPC3):c.3147T>A (p.Ile1049=) rs747495607
NM_000256.3(MYBPC3):c.330T>G (p.Pro110=) rs2142868760
NM_000256.3(MYBPC3):c.3405C>T (p.Tyr1135=)
NM_000256.3(MYBPC3):c.3628-45T>A rs1565622514
NM_000256.3(MYBPC3):c.3651T>C (p.Asn1217=) rs528649058
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) rs397516039
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.909-8T>C rs1260212325

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.