ClinVar Miner

List of variants in gene MED13L reported as pathogenic for Transposition of the great arteries, dextro-looped 1

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Total variants: 13
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HGVS dbSNP
NC_000012.12:g.(?_115961246)_(116096772_?)del
NM_015335.4(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.4(MED13L):c.263G>A (p.Trp88Ter)
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
NM_015335.4(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) rs28940310
NM_015335.4(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)

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