ClinVar Miner

List of variants in gene MED13L reported as likely pathogenic by GenomeConnect - Simons Searchlight

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
NM_015335.4(MED13L):c.5588+1G>A rs1135401810
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555

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