ClinVar Miner

List of variants in gene MED13L studied for not specified

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.2013-9G>T rs200367922 0.10199
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.650A>C (p.Asn217Thr) rs772021396 0.00010
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) rs191743300 0.00010
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln) rs977444793 0.00001
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe) rs1876518341 0.00001
GRCh37/hg19 12q24.21(chr12:116374312-116535323)
GRCh37/hg19 12q24.21(chr12:116463228-116535323)
GRCh37/hg19 12q24.21(chr12:116523800-116581474)
GRCh37/hg19 12q24.21(chr12:116535307-116557569)x1
GRCh37/hg19 12q24.21(chr12:116693044-116725907)x1
NM_015335.5(MED13L):c.-9dup rs2138617119
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp) rs2137386497
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly)
NM_015335.5(MED13L):c.190C>G (p.Leu64Val)
NM_015335.5(MED13L):c.2013-29_2013-27dup rs542425590
NM_015335.5(MED13L):c.2013-29dup rs542425590
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.4955+16A>T

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