ClinVar Miner

List of variants in gene MED13L reported as uncertain significance by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr) rs753702133 0.00002
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg) rs757904452 0.00001
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.227T>C (p.Val76Ala) rs766945145 0.00001
NM_015335.5(MED13L):c.2598C>T (p.Pro866=) rs776039984 0.00001
NM_015335.5(MED13L):c.2952A>G (p.Gln984=) rs1592929406 0.00001
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg) rs776268079 0.00001
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp) rs1342461504 0.00001
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser) rs1413572367 0.00001
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) rs774432060 0.00001
NM_015335.5(MED13L):c.898A>T (p.Ser300Cys) rs1325524709 0.00001
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp) rs2499932052
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr) rs972562200
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg) rs2499931445
NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly) rs2499924754
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser) rs1566010110
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro) rs2499912113
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly) rs2499872421
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu) rs1878031116
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys) rs898633108
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly) rs769061925
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His) rs1243736959
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val) rs145290490
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg) rs1565982593
NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr) rs2499940690

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.