ClinVar Miner

List of variants in gene MED13L reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.5731+54A>G rs1992069 0.92737
NM_015335.5(MED13L):c.5731+55T>A rs1992068 0.92734
NM_015335.5(MED13L):c.5364+182A>G rs12422761 0.18735
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.15213
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
NM_015335.5(MED13L):c.4956-40A>G rs56159580 0.14237
NM_015335.5(MED13L):c.2013-7C>T rs199749418 0.12825
NM_015335.5(MED13L):c.2013-9G>T rs200367922 0.10199
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03209
NM_015335.5(MED13L):c.395+60A>G rs17498473 0.01828
NM_015335.5(MED13L):c.4955+139A>G rs71469744 0.01308
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01060
NM_015335.5(MED13L):c.948G>A (p.Lys316=) rs61748072 0.01036
NM_015335.5(MED13L):c.625+41C>T rs114742297 0.01019
NM_015335.5(MED13L):c.1009+12C>G rs113214439 0.00872
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=) rs78561507 0.00853
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00806
NM_015335.5(MED13L):c.1590C>T (p.Ala530=) rs114269768 0.00591
NM_015335.5(MED13L):c.479+35C>T rs186688405 0.00434
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
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.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00074
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00056
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00056
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) rs568906108 0.00051
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.969G>A (p.Met323Ile) rs141207031 0.00017
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00015
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) rs201414612 0.00008
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=) rs757338321 0.00002
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
NM_015335.5(MED13L):c.2570-74T>A rs11067873
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys) rs1878039306
NM_015335.5(MED13L):c.626-27A>C rs11611238

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