ClinVar Miner

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

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Total variants: 68
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HGVS dbSNP
NM_015335.4(MED13L):c.1010-11dup rs771044608
NM_015335.4(MED13L):c.1124A>G (p.His375Arg) rs376059806
NM_015335.4(MED13L):c.1175+5G>A rs567368642
NM_015335.4(MED13L):c.1308C>T (p.Val436=) rs149631695
NM_015335.4(MED13L):c.1385C>T (p.Pro462Leu) rs772715909
NM_015335.4(MED13L):c.1785G>C (p.Leu595=) rs1592942104
NM_015335.4(MED13L):c.1877C>T (p.Pro626Leu) rs186297695
NM_015335.4(MED13L):c.1914C>T (p.Leu638=) rs1279215396
NM_015335.4(MED13L):c.2013-5T>C rs372464585
NM_015335.4(MED13L):c.2352G>T (p.Arg784=) rs1226259653
NM_015335.4(MED13L):c.2682A>G (p.Ala894=) rs146390612
NM_015335.4(MED13L):c.2871G>A (p.Pro957=) rs771187948
NM_015335.4(MED13L):c.3063C>T (p.Pro1021=) rs142191700
NM_015335.4(MED13L):c.311-13dup rs150398214
NM_015335.4(MED13L):c.3273C>T (p.Pro1091=) rs145072799
NM_015335.4(MED13L):c.3354C>T (p.Ser1118=) rs368878357
NM_015335.4(MED13L):c.3752G>A (p.Arg1251His) rs142574863
NM_015335.4(MED13L):c.4275A>G (p.Pro1425=) rs112942800
NM_015335.4(MED13L):c.4339-10A>G rs376463996
NM_015335.4(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287
NM_015335.4(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707
NM_015335.4(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561
NM_015335.4(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513
NM_015335.4(MED13L):c.4788T>A (p.Ile1596=) rs757338321
NM_015335.4(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628
NM_015335.4(MED13L):c.4956-10C>G rs1060504701
NM_015335.4(MED13L):c.4956-5T>A rs771118133
NM_015335.4(MED13L):c.5134G>A (p.Asp1712Asn) rs1565992052
NM_015335.4(MED13L):c.5316G>A (p.Thr1772=) rs746426523
NM_015335.4(MED13L):c.5409C>T (p.Ala1803=) rs756949902
NM_015335.4(MED13L):c.546G>A (p.Glu182=) rs781132536
NM_015335.4(MED13L):c.5658T>A (p.Ile1886=) rs1592904456
NM_015335.4(MED13L):c.5732-3C>T rs370245982
NM_015335.4(MED13L):c.57C>A (p.Ser19=) rs1060504702
NM_015335.4(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.4(MED13L):c.626-10C>A rs776407123
NM_015335.4(MED13L):c.626-4A>G rs768048151
NM_015335.4(MED13L):c.6348G>A (p.Ser2116=) rs769874135
NM_015335.4(MED13L):c.6486G>A (p.Thr2162=) rs763493523
NM_015335.4(MED13L):c.73-7T>C rs199550041
NM_015335.4(MED13L):c.878C>T (p.Pro293Leu) rs537593859
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys)
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe)
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
NM_015335.5(MED13L):c.2013-10_2013-9insTG
NM_015335.5(MED13L):c.2013-7C>T
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln)
NM_015335.5(MED13L):c.2292G>A (p.Pro764=)
NM_015335.5(MED13L):c.2911C>T (p.Leu971=)
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
NM_015335.5(MED13L):c.360G>A (p.Thr120=)
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=)
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys)
NM_015335.5(MED13L):c.4269G>T (p.Val1423=)
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=)
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=)
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=)
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=)
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=)
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=)
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=)
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile)
NM_015335.5(MED13L):c.564A>G (p.Pro188=)
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=)
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=)
NM_015335.5(MED13L):c.969G>A (p.Met323Ile)

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