ClinVar Miner

List of variants in gene MED13L reported as likely pathogenic for not provided

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Total variants: 16
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3
NM_015335.4(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.4(MED13L):c.2605C>A (p.Pro869Thr) rs1057524103
NM_015335.4(MED13L):c.2633C>T (p.Ser878Phe) rs1064794939
NM_015335.4(MED13L):c.2636C>T (p.Pro879Leu) rs1064795068
NM_015335.4(MED13L):c.2930C>T (p.Ala977Val) rs1131691671
NM_015335.4(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.4(MED13L):c.43G>T (p.Glu15Ter) rs1057520775
NM_015335.4(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.4(MED13L):c.5175G>T (p.Gln1725His) rs1555243051
NM_015335.4(MED13L):c.5785A>G (p.Lys1929Glu) rs1064795586
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) rs1555245254
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His)
NM_015335.5(MED13L):c.6461dup (p.His2155fs) rs1592890905

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