ClinVar Miner

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

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Total variants: 15
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GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
NM_015335.4(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.4(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.4(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)

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