ClinVar Miner

List of variants reported as benign for dextro-looped transposition of the great arteries by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
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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

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