ClinVar Miner

List of variants in gene MED13L reported as uncertain significance for Transposition of the great arteries, dextro-looped

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Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_015335.5(MED13L):c.650A>C (p.Asn217Thr) rs772021396 0.00010
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267 0.00006
NM_015335.5(MED13L):c.3934+3A>G rs747852225 0.00005
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val) rs747089502 0.00003
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) rs763491465 0.00002
NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg) rs1478066317 0.00001
NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg) rs1427629915 0.00001
NM_015335.5(MED13L):c.1924G>C (p.Asp642His) rs375037374 0.00001
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu) rs200257416 0.00001
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) rs757359386 0.00001
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu) rs1879015895 0.00001
NM_015335.5(MED13L):c.2791-3C>T rs768223325 0.00001
NM_015335.5(MED13L):c.3355G>A (p.Val1119Met) rs574079603 0.00001
NM_015335.5(MED13L):c.3606G>A (p.Met1202Ile) rs752751372 0.00001
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met) rs775807063 0.00001
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala) rs780657499 0.00001
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys) rs757111256 0.00001
NM_015335.5(MED13L):c.4508C>T (p.Ala1503Val) rs775785751 0.00001
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser) rs781607336 0.00001
NM_015335.5(MED13L):c.4880A>G (p.Gln1627Arg) rs752932375 0.00001
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile) rs140287114 0.00001
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His) rs28940310 0.00001
NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333 0.00001
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) rs774432060 0.00001
NM_015335.5(MED13L):c.805G>A (p.Val269Ile) rs1879944991 0.00001
NC_000012.11:g.(?_116534454)_(116534577_?)del
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val)
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro)
NM_015335.5(MED13L):c.106A>G (p.Asn36Asp)
NM_015335.5(MED13L):c.1073C>T (p.Thr358Met)
NM_015335.5(MED13L):c.1076T>C (p.Met359Thr)
NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln)
NM_015335.5(MED13L):c.119A>G (p.His40Arg)
NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr) rs1247142719
NM_015335.5(MED13L):c.1260A>C (p.Arg420Ser) rs768900677
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr)
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys)
NM_015335.5(MED13L):c.1298G>A (p.Arg433His)
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg)
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala)
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln)
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile)
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) rs1879225158
NM_015335.5(MED13L):c.1551A>C (p.Leu517Phe)
NM_015335.5(MED13L):c.1551A>T (p.Leu517Phe)
NM_015335.5(MED13L):c.1629T>A (p.Asn543Lys)
NM_015335.5(MED13L):c.1637A>G (p.Asp546Gly)
NM_015335.5(MED13L):c.1649C>G (p.Ser550Cys)
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr)
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile)
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys)
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser)
NM_015335.5(MED13L):c.1840G>A (p.Glu614Lys)
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val)
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly)
NM_015335.5(MED13L):c.1928A>G (p.Asp643Gly) rs1344076513
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val)
NM_015335.5(MED13L):c.1975A>G (p.Lys659Glu)
NM_015335.5(MED13L):c.1999A>G (p.Thr667Ala)
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe) rs753868437
NM_015335.5(MED13L):c.2081A>G (p.His694Arg)
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser)
NM_015335.5(MED13L):c.2239-3_2239-2del
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) rs368050346
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr)
NM_015335.5(MED13L):c.2354A>T (p.Gln785Leu) rs1555247342
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly)
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val)
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe)
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe)
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu)
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro)
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly)
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu)
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp)
NM_015335.5(MED13L):c.2809A>C (p.Lys937Gln)
NM_015335.5(MED13L):c.2818T>C (p.Ser940Pro)
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu)
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser)
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser)
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr)
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala)
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile)
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His)
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.5(MED13L):c.3658G>A (p.Glu1220Lys)
NM_015335.5(MED13L):c.3659A>G (p.Glu1220Gly)
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val) rs1878044534
NM_015335.5(MED13L):c.3677TCC[3] (p.Leu1229del)
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala)
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp)
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln)
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg)
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) rs1877746863
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=)
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala)
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys)
NM_015335.5(MED13L):c.4247G>A (p.Arg1416His)
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly)
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp)
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly)
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) rs752521430
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg)
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met)
NM_015335.5(MED13L):c.4639C>A (p.Pro1547Thr)
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser)
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr)
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp)
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu)
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro)
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys)
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg)
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser)
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr)
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)
NM_015335.5(MED13L):c.4956-3C>T
NM_015335.5(MED13L):c.4957G>A (p.Val1653Ile)
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu)
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu)
NM_015335.5(MED13L):c.5057C>A (p.Thr1686Lys)
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val)
NM_015335.5(MED13L):c.5175+10T>G
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys)
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln)
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr) rs2137264450
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile)
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu)
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val)
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln)
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
NM_015335.5(MED13L):c.5631G>T (p.Gln1877His) rs1555241858
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) rs1876852244
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser)
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
NM_015335.5(MED13L):c.5827C>G (p.Pro1943Ala)
NM_015335.5(MED13L):c.5831C>T (p.Ser1944Phe)
NM_015335.5(MED13L):c.583G>A (p.Glu195Lys)
NM_015335.5(MED13L):c.585_586delinsTT (p.Glu195_His196delinsAspTyr)
NM_015335.5(MED13L):c.5929G>A (p.Ala1977Thr)
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys) rs1876523724
NM_015335.5(MED13L):c.5943G>C (p.Gln1981His)
NM_015335.5(MED13L):c.59A>G (p.Asn20Ser)
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His) rs2137203239
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile)
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu)
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp)
NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys)
NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys)
NM_015335.5(MED13L):c.6570dup (p.Cys2191fs) rs1592888491
NM_015335.5(MED13L):c.681_682delinsTG (p.Met227_Ser228delinsIleAla)
NM_015335.5(MED13L):c.698G>T (p.Arg233Leu)
NM_015335.5(MED13L):c.727T>C (p.Tyr243His)
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
NM_015335.5(MED13L):c.7G>A (p.Ala3Thr)
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)

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