ClinVar Miner

List of variants studied for Hypertrophic cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) rs145847114 0.00165
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu) rs72554071 0.00121
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_002471.4(MYH6):c.3978+8C>T rs367866050 0.00088
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_005751.5(AKAP9):c.8975C>T (p.Ser2992Leu) rs149341527 0.00051
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001330.5(CTF1):c.275C>A (p.Ala92Glu) rs727502949 0.00023
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) rs146768859 0.00017
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_014391.3(ANKRD1):c.133C>G (p.Leu45Val) rs372030578 0.00008
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys) rs747583925 0.00006
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val) rs762090105 0.00003
NM_033118.4(MYLK2):c.1625A>G (p.Asn542Ser) rs775059729 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp) rs771919907 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001148.6(ANK2):c.9842A>G (p.Gln3281Arg) rs1306812632 0.00002
NM_017636.4(TRPM4):c.1787T>C (p.Leu596Pro) rs946021556 0.00002
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val) rs774461588 0.00001
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser) rs1448738061 0.00001
NM_001032283.3(TMPO):c.565+1968G>A rs1051007448 0.00001
NM_001148.6(ANK2):c.4255G>A (p.Asp1419Asn) rs745771608 0.00001
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe) rs750774547 0.00001
NM_001267550.2(TTN):c.19484G>A (p.Gly6495Asp) rs182633829 0.00001
NM_001267550.2(TTN):c.22868G>A (p.Gly7623Glu) rs752804619 0.00001
NM_001267550.2(TTN):c.61182G>C (p.Lys20394Asn) rs1251147363 0.00001
NM_004982.4(KCNJ8):c.1194C>G (p.Ile398Met) rs765422464 0.00001
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_001035.3(RYR2):c.2434A>C (p.Lys812Gln) rs1572625235
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.70108G>T (p.Gly23370Cys) rs1575812009
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu) rs561319491
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_005477.3(HCN4):c.1005G>T (p.Met335Ile) rs758797709
NM_007078.3(LDB3):c.1621C>T (p.Arg541Ter) rs779919472
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_017636.4(TRPM4):c.641G>A (p.Arg214His) rs145878044
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_144573.4(NEXN):c.774A>C (p.Arg258Ser) rs1278436075

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.