ClinVar Miner

List of variants in gene MED13L studied for MED13L-Related Disorder

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter) rs2137385115
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828

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