ClinVar Miner

List of variants in gene MED13L reported by Baylor Genetics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met) rs746110094
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) rs368050346
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu) rs2137287209
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) rs1877686983
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln) rs1461395322
NM_015335.5(MED13L):c.4956-2A>C rs1057518705
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) rs1877403231
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile) rs201002721
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser) rs1183900324

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