ClinVar Miner

List of variants reported as benign for Transposition of the great arteries, dextro-looped by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.14937
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03424
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01078
NM_015335.5(MED13L):c.948G>A (p.Lys316=) rs61748072 0.01036
NM_015335.5(MED13L):c.1009+12C>G rs113214439 0.00872
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
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.1590C>T (p.Ala530=) rs114269768 0.00638
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) rs61748071 0.00444
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 0.00295
NM_015335.5(MED13L):c.1095G>A (p.Ser365=) rs144327790 0.00284
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.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.5365-13G>A rs187309577 0.00119
NM_015335.5(MED13L):c.6225+20C>T rs146803417 0.00116
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00114
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00084
NM_015335.5(MED13L):c.1010-14G>A rs368042803 0.00083
NM_015335.5(MED13L):c.771C>T (p.Asp257=) rs148136300 0.00061
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.4758G>A (p.Pro1586=) rs141818426 0.00034
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00017
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) rs200960898 0.00013
NM_015335.5(MED13L):c.4767G>A (p.Ser1589=) rs573917510 0.00011
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) rs558160659 0.00010
NM_015335.5(MED13L):c.5890+11T>G rs138264591 0.00008
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) rs747244814 0.00006
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=) rs753776073 0.00006
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166 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.3435C>T (p.Val1145=) rs568906108 0.00004
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala) rs373887964 0.00004
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser) rs377207761 0.00003
NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala) rs769509528 0.00003
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile) rs377611234 0.00003
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) rs749407155 0.00002
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=) rs780149328 0.00002
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) rs371805787 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys) rs375719087 0.00001
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) rs750422287 0.00001
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) rs758950766 0.00001
NM_015335.5(MED13L):c.451G>A (p.Glu151Lys) rs773315749 0.00001
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00001
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu) rs775015157 0.00001
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser)
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile)
NM_015335.5(MED13L):c.1176-3T>C
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro)
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile)
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val)
NM_015335.5(MED13L):c.1650C>G (p.Ser550=)
NM_015335.5(MED13L):c.166A>G (p.Ile56Val)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
NM_015335.5(MED13L):c.1803C>T (p.Leu601=)
NM_015335.5(MED13L):c.1839C>T (p.Ser613=)
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys)
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu)
NM_015335.5(MED13L):c.211G>A (p.Val71Ile)
NM_015335.5(MED13L):c.2289G>T (p.Thr763=)
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg)
NM_015335.5(MED13L):c.2470-15A>G
NM_015335.5(MED13L):c.2470-20A>G
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr)
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr)
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala)
NM_015335.5(MED13L):c.2845A>G (p.Met949Val)
NM_015335.5(MED13L):c.2868G>A (p.Leu956=)
NM_015335.5(MED13L):c.2997-11T>G
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=)
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala)
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu)
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr)
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr)
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val)
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys)
NM_015335.5(MED13L):c.3645C>T (p.Thr1215=)
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys)
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=)
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=)
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly)
NM_015335.5(MED13L):c.4339-9T>C
NM_015335.5(MED13L):c.4520G>A (p.Arg1507His)
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr)
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=)
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser)
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr)
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=)
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val)
NM_015335.5(MED13L):c.4956-11TC[3]
NM_015335.5(MED13L):c.5176-17dup rs138808854
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=)
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=)
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=)
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=)
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His)
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val)
NM_015335.5(MED13L):c.593A>C (p.His198Pro) rs764593997
NM_015335.5(MED13L):c.6068-17del
NM_015335.5(MED13L):c.6108C>T (p.Asp2036=)
NM_015335.5(MED13L):c.6156C>T (p.Asn2052=)
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.5(MED13L):c.6387+4G>C
NM_015335.5(MED13L):c.6388-7dup rs753004245
NM_015335.5(MED13L):c.6441C>G (p.Ala2147=)
NM_015335.5(MED13L):c.6579C>T (p.Pro2193=)
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929
NM_015335.5(MED13L):c.758C>T (p.Ser253Leu)
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.