ClinVar Miner

List of variants in gene MED13L reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00273
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00105
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00056
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) rs141818426 0.00048
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00029
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00021
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00020
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00016
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=) rs142191700 0.00013
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) rs200960898 0.00013
NM_015335.5(MED13L):c.36G>A (p.Ala12=) rs562987588 0.00009
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=) rs368878357 0.00007
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) rs144357346 0.00006
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267 0.00006
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=) rs112942800 0.00006
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=) rs765903489 0.00003
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=) rs145072799 0.00003
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=) rs140397237 0.00003
NM_015335.5(MED13L):c.3847C>T (p.Arg1283Trp) rs769123468 0.00003
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=) rs376574569 0.00003
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=) rs1482014512 0.00003
NM_015335.5(MED13L):c.3756A>G (p.Gln1252=) rs952740214 0.00002
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=) rs781200403 0.00002
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu) rs200257416 0.00001
NM_015335.5(MED13L):c.2211G>A (p.Thr737=) rs747879843 0.00001
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=) rs761547177 0.00001
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His) rs543711219 0.00001
NM_015335.5(MED13L):c.4478A>C (p.Asn1493Thr) rs1294988714 0.00001
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=) rs753488932 0.00001
NM_015335.5(MED13L):c.5235A>G (p.Gln1745=) rs766326918 0.00001
NM_015335.5(MED13L):c.5457G>A (p.Ala1819=) rs749664477 0.00001
NM_015335.5(MED13L):c.879G>A (p.Pro293=) rs140586744 0.00001
NM_015335.5(MED13L):c.2996+7A>G rs775346686
NM_015335.5(MED13L):c.3060A>C (p.Thr1020=) rs2499858262
NM_015335.5(MED13L):c.311-4dup rs150398214
NM_015335.5(MED13L):c.3129C>T (p.Thr1043=) rs1157981828
NM_015335.5(MED13L):c.3630T>A (p.Pro1210=) rs2499855971
NM_015335.5(MED13L):c.3666C>T (p.Pro1222=) rs2137305799
NM_015335.5(MED13L):c.3768T>C (p.Cys1256=) rs765216049
NM_015335.5(MED13L):c.4722A>C (p.Ala1574=) rs770636795
NM_015335.5(MED13L):c.5793G>T (p.Val1931=)
NM_015335.5(MED13L):c.5973T>G (p.Ala1991=) rs2499969727
NM_015335.5(MED13L):c.6462A>T (p.Pro2154=)
NM_015335.5(MED13L):c.6582C>T (p.Val2194=) rs956746436

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