ClinVar Miner

List of variants in gene MED13L reported as pathogenic for Transposition of the great arteries, dextro-looped

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NC_000012.11:g.(?_116418535)_(116420428_?)del
NC_000012.11:g.(?_116534454)_(116549337_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
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.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

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