ClinVar Miner

List of variants in gene MED13L reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00010
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.3788G>A (p.Arg1263Gln) rs374506267 0.00006
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
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.697C>T (p.Arg233Cys) rs766642871 0.00004
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly) rs1345208839 0.00003
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val) rs747089502 0.00003
NM_015335.5(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599 0.00002
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) rs763491465 0.00002
NM_015335.5(MED13L):c.1029G>C (p.Gln343His) rs749587320 0.00001
NM_015335.5(MED13L):c.1261G>A (p.Val421Ile) rs935188053 0.00001
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.1609A>G (p.Ser537Gly) rs1332032276 0.00001
NM_015335.5(MED13L):c.1717C>A (p.Pro573Thr) rs368307140 0.00001
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu) rs780566155 0.00001
NM_015335.5(MED13L):c.1924G>C (p.Asp642His) rs375037374 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg) rs781324695 0.00001
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu) rs200257416 0.00001
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) rs1879044151 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.2704A>G (p.Met902Val) rs1468213991 0.00001
NM_015335.5(MED13L):c.2791-3C>T rs768223325 0.00001
NM_015335.5(MED13L):c.2815C>G (p.Pro939Ala) rs1195996739 0.00001
NM_015335.5(MED13L):c.3134G>A (p.Arg1045His) rs1165240255 0.00001
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln) rs977444793 0.00001
NM_015335.5(MED13L):c.3268C>T (p.Arg1090Trp) rs762410081 0.00001
NM_015335.5(MED13L):c.3355G>A (p.Val1119Met) rs574079603 0.00001
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val) rs773730403 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.4114+2T>A rs1393295692 0.00001
NM_015335.5(MED13L):c.4115-7A>T rs1054976642 0.00001
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala) rs780657499 0.00001
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) rs758950766 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.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro) rs1261763875 0.00001
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser) rs781607336 0.00001
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.4877C>T (p.Thr1626Met) rs911625539 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.5294A>G (p.Gln1765Arg) rs369933421 0.00001
NM_015335.5(MED13L):c.5462A>G (p.Gln1821Arg) rs1876884436 0.00001
NM_015335.5(MED13L):c.5510G>A (p.Arg1837His) rs565032784 0.00001
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His) rs28940310 0.00001
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe) rs1876518341 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.731C>T (p.Pro244Leu) rs775015157 0.00001
NM_015335.5(MED13L):c.805G>A (p.Val269Ile) rs1879944991 0.00001
GRCh37/hg19 12q24.21(chr12:115882666-116463228)x3
GRCh37/hg19 12q24.21(chr12:116314744-116499832)x3
GRCh37/hg19 12q24.21(chr12:116318205-116408746)x3
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116698142)x3
GRCh37/hg19 12q24.21(chr12:116463228-116535323)
NC_000012.11:g.(?_116534454)_(116534577_?)del
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.5(MED13L):c.-9dup rs2138617119
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val)
NM_015335.5(MED13L):c.1009+5G>C rs1879910076
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro)
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg)
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.1141T>C (p.Trp381Arg)
NM_015335.5(MED13L):c.1169A>T (p.Gln390Leu)
NM_015335.5(MED13L):c.1175+20T>C rs1879642923
NM_015335.5(MED13L):c.1195C>T (p.Pro399Ser) rs1879500574
NM_015335.5(MED13L):c.119A>G (p.His40Arg)
NM_015335.5(MED13L):c.1226C>T (p.Pro409Leu)
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.1267T>G (p.Cys423Gly)
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr)
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys)
NM_015335.5(MED13L):c.1286A>G (p.Lys429Arg)
NM_015335.5(MED13L):c.1298G>A (p.Arg433His)
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)
NM_015335.5(MED13L):c.1338A>C (p.Gln446His)
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg)
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala)
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp) rs2137386497
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.1444A>G (p.Arg482Gly)
NM_015335.5(MED13L):c.1448C>T (p.Pro483Leu) rs2137386182
NM_015335.5(MED13L):c.145G>A (p.Ala49Thr)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
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.1656A>G (p.Ile552Met) rs746110094
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr)
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu) rs377144746
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)
NM_015335.5(MED13L):c.1759C>G (p.Leu587Val)
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile)
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys)
NM_015335.5(MED13L):c.1823T>C (p.Leu608Pro)
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.1952T>G (p.Leu651Arg)
NM_015335.5(MED13L):c.1967G>A (p.Cys656Tyr)
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.199A>G (p.Asn67Asp)
NM_015335.5(MED13L):c.2013-1G>T
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe) rs753868437
NM_015335.5(MED13L):c.2061G>T (p.Gln687His) rs770538291
NM_015335.5(MED13L):c.2081A>G (p.His694Arg)
NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg) rs2137378723
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
NM_015335.5(MED13L):c.2189A>G (p.Asn730Ser) rs2137378538
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser)
NM_015335.5(MED13L):c.2227A>C (p.Lys743Gln)
NM_015335.5(MED13L):c.2239-3_2239-2del
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) rs368050346
NM_015335.5(MED13L):c.2255G>C (p.Gly752Ala)
NM_015335.5(MED13L):c.227T>C (p.Val76Ala)
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
NM_015335.5(MED13L):c.2288C>T (p.Thr763Met)
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr)
NM_015335.5(MED13L):c.2318C>T (p.Ser773Phe)
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.2354A>T (p.Gln785Leu) rs1555247342
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val) rs1299165203
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly)
NM_015335.5(MED13L):c.2470-5C>G rs1162894958
NM_015335.5(MED13L):c.2479C>T (p.Pro827Ser)
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.2539G>A (p.Asp847Asn)
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu)
NM_015335.5(MED13L):c.2570-1G>T rs2137331044
NM_015335.5(MED13L):c.2581T>G (p.Leu861Val)
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro)
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2598C>T (p.Pro866=)
NM_015335.5(MED13L):c.2635C>A (p.Pro879Thr)
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala) rs2137330781
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly)
NM_015335.5(MED13L):c.2674G>C (p.Val892Leu)
NM_015335.5(MED13L):c.269A>G (p.Asp90Gly) rs2138459001
NM_015335.5(MED13L):c.26C>T (p.Ala9Val)
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu)
NM_015335.5(MED13L):c.2776C>A (p.Pro926Thr)
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.2832T>A (p.Phe944Leu) rs764385703
NM_015335.5(MED13L):c.2847G>A (p.Met949Ile)
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser)
NM_015335.5(MED13L):c.2908T>C (p.Cys970Arg)
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
NM_015335.5(MED13L):c.2920C>T (p.Pro974Ser) rs2137328362
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)
NM_015335.5(MED13L):c.2944A>T (p.Ile982Phe) rs2137328252
NM_015335.5(MED13L):c.2952A>G (p.Gln984=)
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser)
NM_015335.5(MED13L):c.2996A>T (p.Asn999Ile)
NM_015335.5(MED13L):c.2997-2A>G rs1198136487
NM_015335.5(MED13L):c.3032A>G (p.Asp1011Gly) rs1878087235
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu) rs1878087028
NM_015335.5(MED13L):c.3173G>A (p.Arg1058Lys)
NM_015335.5(MED13L):c.3187G>T (p.Gly1063Trp) rs2137307892
NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala)
NM_015335.5(MED13L):c.3269G>T (p.Arg1090Leu)
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.3376_3381del (p.Arg1126_Asn1127del)
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.5(MED13L):c.3451G>A (p.Asp1151Asn)
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser) rs867320311
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His)
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.5(MED13L):c.3503T>C (p.Met1168Thr)
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
NM_015335.5(MED13L):c.3556A>G (p.Ile1186Val)
NM_015335.5(MED13L):c.3596G>A (p.Arg1199Lys)
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
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.3689A>G (p.Gln1230Arg) rs1878042874
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala)
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val) rs777146447
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp)
NM_015335.5(MED13L):c.3806A>G (p.Asn1269Ser)
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)
NM_015335.5(MED13L):c.3833C>T (p.Ala1278Val)
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln)
NM_015335.5(MED13L):c.3895G>A (p.Val1299Met)
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.3920G>C (p.Trp1307Ser)
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)
NM_015335.5(MED13L):c.3930C>G (p.Ser1310Arg)
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)
NM_015335.5(MED13L):c.3938T>G (p.Leu1313Arg) rs759773785
NM_015335.5(MED13L):c.3986C>T (p.Ser1329Phe)
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg)
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His)
NM_015335.5(MED13L):c.4033A>G (p.Arg1345Gly) rs2137290173
NM_015335.5(MED13L):c.404T>C (p.Met135Thr) rs752482619
NM_015335.5(MED13L):c.4086C>T (p.Phe1362=)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) rs1877746863
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=)
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser)
NM_015335.5(MED13L):c.4150A>G (p.Thr1384Ala)
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala)
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys)
NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala)
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu) rs2137287209
NM_015335.5(MED13L):c.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.5(MED13L):c.4230C>A (p.Asp1410Glu) rs2137287044
NM_015335.5(MED13L):c.4235A>G (p.Tyr1412Cys) rs1190857852
NM_015335.5(MED13L):c.4247G>A (p.Arg1416His)
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys) rs2137286817
NM_015335.5(MED13L):c.4298G>A (p.Gly1433Glu) rs2137286575
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr) rs1363042572
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.4373A>G (p.Lys1458Arg)
NM_015335.5(MED13L):c.4379T>C (p.Leu1460Pro)
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr)
NM_015335.5(MED13L):c.4386C>A (p.Asp1462Glu)
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.5(MED13L):c.4427C>T (p.Thr1476Ile)
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln) rs1461395322
NM_015335.5(MED13L):c.4490C>A (p.Ser1497Tyr)
NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe)
NM_015335.5(MED13L):c.4532-13T>G
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) rs752521430
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg)
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr) rs2137275405
NM_015335.5(MED13L):c.4621A>C (p.Thr1541Pro)
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.4694C>T (p.Thr1565Ile)
NM_015335.5(MED13L):c.4700A>G (p.Asn1567Ser)
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr)
NM_015335.5(MED13L):c.4720GCA[1] (p.Ala1575del)
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp)
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr) rs748040838
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu)
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro)
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp)
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly) rs2137274550
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)
NM_015335.5(MED13L):c.47A>G (p.Asp16Gly)
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu)
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys)
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg)
NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser)
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly)
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser)
NM_015335.5(MED13L):c.4921A>G (p.Ser1641Gly)
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr)
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)
NM_015335.5(MED13L):c.4955+16A>T
NM_015335.5(MED13L):c.4956-3C>T
NM_015335.5(MED13L):c.4957G>A (p.Val1653Ile)
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
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.5057C>T (p.Thr1686Met) rs1877397719
NM_015335.5(MED13L):c.5084C>A (p.Ser1695Tyr) rs775457796
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val)
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His) rs1877392834
NM_015335.5(MED13L):c.5175+10T>G
NM_015335.5(MED13L):c.5176A>G (p.Ile1726Val)
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys)
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)
NM_015335.5(MED13L):c.5215G>A (p.Glu1739Lys)
NM_015335.5(MED13L):c.5219A>T (p.Gln1740Leu)
NM_015335.5(MED13L):c.5233C>G (p.Gln1745Glu)
NM_015335.5(MED13L):c.5234A>G (p.Gln1745Arg)
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln)
NM_015335.5(MED13L):c.5288C>A (p.Pro1763His) rs747112698
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr) rs2137264450
NM_015335.5(MED13L):c.5315C>T (p.Thr1772Met) rs2137264380
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) rs1592911270
NM_015335.5(MED13L):c.5327C>T (p.Pro1776Leu) rs1592911259
NM_015335.5(MED13L):c.5344A>G (p.Met1782Val)
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile)
NM_015335.5(MED13L):c.5350C>T (p.Leu1784Phe) rs948548287
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu)
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val) rs750257495
NM_015335.5(MED13L):c.5393C>T (p.Pro1798Leu)
NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val)
NM_015335.5(MED13L):c.5459_5460delinsTA (p.Ser1820Ile) rs2137243699
NM_015335.5(MED13L):c.5470A>G (p.Asn1824Asp)
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys)
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln)
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg)
NM_015335.5(MED13L):c.5615G>C (p.Arg1872Pro)
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del) rs1876856419
NM_015335.5(MED13L):c.5631G>T (p.Gln1877His) rs1555241858
NM_015335.5(MED13L):c.5651T>C (p.Ile1884Thr)
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile) rs201002721
NM_015335.5(MED13L):c.565A>C (p.Ile189Leu)
NM_015335.5(MED13L):c.5665A>G (p.Met1889Val)
NM_015335.5(MED13L):c.5687T>A (p.Val1896Asp)
NM_015335.5(MED13L):c.5710C>G (p.Leu1904Val)
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) rs1876852244
NM_015335.5(MED13L):c.5719G>T (p.Gly1907Trp)
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly)
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser)
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
NM_015335.5(MED13L):c.5827C>A (p.Pro1943Thr) rs1555241424
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.5902A>G (p.Met1968Val)
NM_015335.5(MED13L):c.5904G>A (p.Met1968Ile) rs2137223825
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln) rs1876524831
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.5951A>G (p.Gln1984Arg) rs2137223630
NM_015335.5(MED13L):c.5953C>G (p.Leu1985Val) rs2137223609
NM_015335.5(MED13L):c.5957A>G (p.Asn1986Ser)
NM_015335.5(MED13L):c.5972C>T (p.Ala1991Val)
NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr) rs2137223521
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944
NM_015335.5(MED13L):c.59A>G (p.Asn20Ser)
NM_015335.5(MED13L):c.6010A>G (p.Thr2004Ala)
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu)
NM_015335.5(MED13L):c.6067+5G>A
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe) rs1876393490
NM_015335.5(MED13L):c.610C>G (p.Pro204Ala)
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
NM_015335.5(MED13L):c.6151C>T (p.Pro2051Ser) rs2137216697
NM_015335.5(MED13L):c.6155A>C (p.Asn2052Thr) rs766487372
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser)
NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg) rs2137203328
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His) rs2137203239
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) rs1876147349
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile)
NM_015335.5(MED13L):c.6310G>T (p.Ala2104Ser) rs1019178380
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu)
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)
NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg)
NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu)
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp)
NM_015335.5(MED13L):c.652G>A (p.Gly218Arg)
NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met) rs1875744082
NM_015335.5(MED13L):c.6548C>T (p.Pro2183Leu)
NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn)
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.6577C>A (p.Pro2193Thr) rs2137182119
NM_015335.5(MED13L):c.6592G>C (p.Val2198Leu)
NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)
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.735G>T (p.Met245Ile)
NM_015335.5(MED13L):c.747G>T (p.Lys249Asn) rs921393421
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.769G>A (p.Asp257Asn)
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
NM_015335.5(MED13L):c.787G>A (p.Asp263Asn)
NM_015335.5(MED13L):c.799G>A (p.Val267Met)
NM_015335.5(MED13L):c.79C>T (p.Leu27Phe)
NM_015335.5(MED13L):c.7G>A (p.Ala3Thr)
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
NM_015335.5(MED13L):c.850T>A (p.Phe284Ile)
NM_015335.5(MED13L):c.88A>G (p.Ile30Val) rs2138459773
NM_015335.5(MED13L):c.896C>G (p.Ala299Gly)
NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)
NM_015335.5(MED13L):c.92A>G (p.Lys31Arg)
NM_015335.5(MED13L):c.941G>T (p.Ser314Ile)
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser) rs1183900324
NM_015335.5(MED13L):c.971C>T (p.Pro324Leu)
NM_015335.5(MED13L):c.986C>T (p.Thr329Ile)
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117

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