ClinVar Miner

List of variants reported as pathogenic for dextro-looped transposition of the great arteries

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NC_000012.11:g.(?_116418535)_(116420428_?)del
NC_000012.11:g.(?_116534454)_(116549337_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NM_001200.4(BMP2):c.962A>T (p.His321Leu)
NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile) rs2120691810
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) rs1879651226
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
NM_015335.5(MED13L):c.1405dup (p.Thr469fs) rs2137386388
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter) rs2137378964
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter)
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) rs1870202051
NM_015335.5(MED13L):c.3381del (p.Phe1128fs)
NM_015335.5(MED13L):c.3779del (p.Ser1260fs)
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) rs1877685759
NM_015335.5(MED13L):c.4715del (p.Asn1572fs)
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter)
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs)
NM_015335.5(MED13L):c.5818del (p.Ala1940fs)
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter) rs1879953298

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.