ClinVar Miner

List of variants in gene MED13L reported as uncertain significance by Ambry Genetics

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) rs1879044151 0.00001
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile) rs140287114 0.00001
NM_015335.5(MED13L):c.1338A>C (p.Gln446His)
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
NM_015335.5(MED13L):c.2479C>T (p.Pro827Ser)
NM_015335.5(MED13L):c.2674G>C (p.Val892Leu)
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala)
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
NM_015335.5(MED13L):c.3689A>G (p.Gln1230Arg) rs1878042874
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser)
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe)
NM_015335.5(MED13L):c.4621A>C (p.Thr1541Pro)
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp)
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu)
NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser)
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly)
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys)
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg)
NM_015335.5(MED13L):c.565A>C (p.Ile189Leu)
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly)
NM_015335.5(MED13L):c.5827C>A (p.Pro1943Thr) rs1555241424
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe) rs1876393490
NM_015335.5(MED13L):c.850T>A (p.Phe284Ile)
NM_015335.5(MED13L):c.92A>G (p.Lys31Arg)
NM_015335.5(MED13L):c.986C>T (p.Thr329Ile)

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