ClinVar Miner

List of variants reported as likely pathogenic for congenital anomaly of cardiovascular system by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter) rs137955225 0.00026
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) rs794728530
NM_000218.3(KCNQ1):c.1591-1G>A rs1590081328
NM_000218.3(KCNQ1):c.1685+2T>G rs1590081467
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.683+1G>A rs1589957233
NM_000218.3(KCNQ1):c.826del (p.Ser276fs) rs786204778
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_001166175.2(NKX2-5):c.*353_*355delinsAT rs397516908
NM_004387.4(NKX2-5):c.335-3C>G rs876657934
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071

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.