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: 43
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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.3512A>G (p.Lys1171Arg) rs147863200 0.00377
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.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00023
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00017
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.3354C>T (p.Ser1118=) rs368878357 0.00006
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) rs144357346 0.00004
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=) rs145072799 0.00004
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=) rs1482014512 0.00003
NM_015335.5(MED13L):c.2211G>A (p.Thr737=) rs747879843 0.00001
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=) rs753488932 0.00001
NM_015335.5(MED13L):c.879G>A (p.Pro293=) rs140586744 0.00001
NM_015335.5(MED13L):c.2996+7A>G
NM_015335.5(MED13L):c.3060A>C (p.Thr1020=)
NM_015335.5(MED13L):c.311-4dup rs150398214
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
NM_015335.5(MED13L):c.3630T>A (p.Pro1210=)
NM_015335.5(MED13L):c.3666C>T (p.Pro1222=)
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
NM_015335.5(MED13L):c.3756A>G (p.Gln1252=)
NM_015335.5(MED13L):c.3768T>C (p.Cys1256=)
NM_015335.5(MED13L):c.3847C>T (p.Arg1283Trp)
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=)
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His)
NM_015335.5(MED13L):c.4478A>C (p.Asn1493Thr)
NM_015335.5(MED13L):c.4722A>C (p.Ala1574=)
NM_015335.5(MED13L):c.5235A>G (p.Gln1745=)
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=)
NM_015335.5(MED13L):c.5973T>G (p.Ala1991=)
NM_015335.5(MED13L):c.6582C>T (p.Val2194=)

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