ClinVar Miner

List of variants in gene MED13L reported as uncertain significance for Mental retardation and distinctive facial features with or without cardiac defects

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Total variants: 23
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HGVS dbSNP
NM_015335.4(MED13L):c.1904G>A (p.Ser635Asn) rs144457722
NM_015335.4(MED13L):c.3518G>T (p.Gly1173Val) rs773730403
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.4(MED13L):c.6155A>C (p.Asn2052Thr) rs766487372
NM_015335.5(MED13L):c.1175+20T>C
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met)
NM_015335.5(MED13L):c.2061G>T (p.Gln687His)
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys)
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val)
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu)
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val)
NM_015335.5(MED13L):c.4114+2T>A
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln)
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro)
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His)
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile)
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser)

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