ClinVar Miner

List of variants in gene MED13L reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) rs191743300 0.00010
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly) rs1345208839 0.00003
NM_015335.5(MED13L):c.1029G>C (p.Gln343His) rs749587320 0.00001
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) rs757359386 0.00001
NM_015335.5(MED13L):c.4115-7A>T rs1054976642 0.00001
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) rs758950766 0.00001
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.1286A>G (p.Lys429Arg)
NM_015335.5(MED13L):c.2255G>C (p.Gly752Ala)
NM_015335.5(MED13L):c.2288C>T (p.Thr763Met)
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser) rs867320311
NM_015335.5(MED13L):c.3503T>C (p.Met1168Thr)
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
NM_015335.5(MED13L):c.3806A>G (p.Asn1269Ser)
NM_015335.5(MED13L):c.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.5(MED13L):c.4230C>A (p.Asp1410Glu) rs2137287044
NM_015335.5(MED13L):c.4427C>T (p.Thr1476Ile)
NM_015335.5(MED13L):c.4490C>A (p.Ser1497Tyr)
NM_015335.5(MED13L):c.4921A>G (p.Ser1641Gly)
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) rs1592911270
NM_015335.5(MED13L):c.5327C>T (p.Pro1776Leu) rs1592911259
NM_015335.5(MED13L):c.5651T>C (p.Ile1884Thr)
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val)
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln) rs1876524831
NM_015335.5(MED13L):c.5957A>G (p.Asn1986Ser)
NM_015335.5(MED13L):c.5972C>T (p.Ala1991Val)
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu)
NM_015335.5(MED13L):c.6548C>T (p.Pro2183Leu)

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