ClinVar Miner

List of variants in gene MED13L reported as pathogenic by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 6
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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.4271_4276delinsTTCCC (p.Cys1424fs) rs1877686983
NM_015335.5(MED13L):c.4956-2A>C rs1057518705
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) rs1877403231
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009

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