ClinVar Miner

List of variants in gene MED13L reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
NM_015335.5(MED13L):c.1176-1G>A rs1566010195
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter) rs2137404791
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2239-11T>G rs2137373566
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs)
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) rs1878068615
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs) rs2137306954
NM_015335.5(MED13L):c.3380del (p.Asn1127fs) rs2137306817
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)
NM_015335.5(MED13L):c.3935-1G>A rs1565995146
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)
NM_015335.5(MED13L):c.4353del (p.Gln1452fs) rs2137278830
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter) rs2137274539
NM_015335.5(MED13L):c.4955+1G>A
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)
NM_015335.5(MED13L):c.5175+1G>A
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) rs1877279397
NM_015335.5(MED13L):c.5364+1G>T
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs) rs1876855942
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg) rs2137241977
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter) rs1879951118
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015335.5(MED13L):c.889_890del (p.Ser297fs)

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