ClinVar Miner

List of variants in gene MED13L reported as uncertain significance for See cases

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala) rs780657499 0.00001
GRCh37/hg19 12q24.21(chr12:116318205-116408746)x3
GRCh37/hg19 12q24.21(chr12:116417092-116698142)x3
NM_015335.5(MED13L):c.5233C>G (p.Gln1745Glu)
NM_015335.5(MED13L):c.5350C>T (p.Leu1784Phe) rs948548287
NM_015335.5(MED13L):c.787G>A (p.Asp263Asn)

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