ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 9 by Invitae

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ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.589+16A>G rs115384987 0.04250
NM_003849.4(SUCLG1):c.201+9A>G rs116492610 0.01020
NM_003849.4(SUCLG1):c.825+18A>G rs143229361 0.00323
NM_003849.4(SUCLG1):c.291C>T (p.Gly97=) rs35996428 0.00183
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_003849.4(SUCLG1):c.309T>C (p.Thr103=) rs142284503 0.00113
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) rs139731592 0.00045
NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys) rs145106503 0.00045
NM_003849.4(SUCLG1):c.97+17C>T rs113923257 0.00035
NM_003849.4(SUCLG1):c.98-18T>G rs747785763 0.00031
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) rs374594774 0.00027
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) rs369610897 0.00025
NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met) rs201224138 0.00025
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=) rs371938859 0.00021
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) rs149809280 0.00019
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) rs141331864 0.00013
NM_003849.4(SUCLG1):c.63C>A (p.Leu21=) rs982734922 0.00012
NM_003849.4(SUCLG1):c.98-19T>G rs1203068688 0.00012
NM_003849.4(SUCLG1):c.102G>A (p.Pro34=) rs767975978 0.00011
NM_003849.4(SUCLG1):c.635A>G (p.Gln212Arg) rs767781003 0.00011
NM_003849.4(SUCLG1):c.22G>T (p.Ala8Ser) rs374871796 0.00010
NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) rs146834097 0.00010
NM_003849.4(SUCLG1):c.803A>G (p.Glu268Gly) rs373814688 0.00009
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_003849.4(SUCLG1):c.319-8T>C rs370790297 0.00007
NM_003849.4(SUCLG1):c.98-8C>A rs754389067 0.00007
NM_003849.4(SUCLG1):c.116G>A (p.Arg39Gln) rs372512876 0.00006
NM_003849.4(SUCLG1):c.202-12T>A rs762549452 0.00006
NM_003849.4(SUCLG1):c.298G>C (p.Val100Leu) rs140441011 0.00006
NM_003849.4(SUCLG1):c.319-13G>A rs374236377 0.00006
NM_003849.4(SUCLG1):c.452A>C (p.Asp151Ala) rs778946494 0.00006
NM_003849.4(SUCLG1):c.820A>G (p.Asn274Asp) rs748368534 0.00006
NM_003849.4(SUCLG1):c.140G>A (p.Arg47Gln) rs199806912 0.00005
NM_003849.4(SUCLG1):c.319-17C>T rs368112738 0.00005
NM_003849.4(SUCLG1):c.397A>T (p.Ile133Phe) rs575207227 0.00005
NM_003849.4(SUCLG1):c.590-7C>T rs537348295 0.00005
NM_003849.4(SUCLG1):c.365C>T (p.Pro122Leu) rs201717664 0.00004
NM_003849.4(SUCLG1):c.826-8del rs1176620455 0.00004
NM_003849.4(SUCLG1):c.262C>T (p.Pro88Ser) rs751480162 0.00003
NM_003849.4(SUCLG1):c.482G>A (p.Arg161His) rs146551543 0.00003
NM_003849.4(SUCLG1):c.670G>A (p.Val224Ile) rs533146473 0.00003
NM_003849.4(SUCLG1):c.1010A>G (p.Tyr337Cys) rs767950611 0.00002
NM_003849.4(SUCLG1):c.1015-18T>A rs961127893 0.00002
NM_003849.4(SUCLG1):c.1026G>C (p.Lys342Asn) rs1224105669 0.00002
NM_003849.4(SUCLG1):c.113T>C (p.Ile38Thr) rs1672909095 0.00002
NM_003849.4(SUCLG1):c.115C>T (p.Arg39Trp) rs75525826 0.00002
NM_003849.4(SUCLG1):c.139C>T (p.Arg47Trp) rs200031508 0.00002
NM_003849.4(SUCLG1):c.302T>G (p.Phe101Cys) rs773748583 0.00002
NM_003849.4(SUCLG1):c.338C>G (p.Ala113Gly) rs200123223 0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) rs140626260 0.00002
NM_003849.4(SUCLG1):c.652T>C (p.Leu218=) rs776610464 0.00002
NM_003849.4(SUCLG1):c.69C>T (p.Ala23=) rs866015308 0.00002
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 0.00002
NM_003849.4(SUCLG1):c.888A>G (p.Arg296=) rs555884621 0.00002
NM_003849.4(SUCLG1):c.11C>T (p.Thr4Ile) rs766814700 0.00001
NM_003849.4(SUCLG1):c.153T>C (p.Tyr51=) rs1404476699 0.00001
NM_003849.4(SUCLG1):c.201+8T>A rs764185628 0.00001
NM_003849.4(SUCLG1):c.202-3C>T rs769207281 0.00001
NM_003849.4(SUCLG1):c.234T>C (p.Tyr78=) rs141150411 0.00001
NM_003849.4(SUCLG1):c.247G>C (p.Val83Leu) rs539350409 0.00001
NM_003849.4(SUCLG1):c.31A>G (p.Ile11Val) rs773513648 0.00001
NM_003849.4(SUCLG1):c.352A>G (p.Ile118Val) rs181953896 0.00001
NM_003849.4(SUCLG1):c.460C>T (p.Arg154Ter) rs369153479 0.00001
NM_003849.4(SUCLG1):c.502A>G (p.Ile168Val) rs763324017 0.00001
NM_003849.4(SUCLG1):c.519T>C (p.Pro173=) rs776695932 0.00001
NM_003849.4(SUCLG1):c.531+7G>A rs1361184240 0.00001
NM_003849.4(SUCLG1):c.640A>G (p.Thr214Ala) rs35594530 0.00001
NM_003849.4(SUCLG1):c.735C>T (p.Asn245=) rs377483465 0.00001
NM_003849.4(SUCLG1):c.736G>A (p.Asp246Asn) rs763743761 0.00001
NM_003849.4(SUCLG1):c.752G>A (p.Gly251Asp) rs140950916 0.00001
NM_003849.4(SUCLG1):c.788A>G (p.Glu263Gly) rs1344182662 0.00001
NM_003849.4(SUCLG1):c.814C>T (p.Gln272Ter) rs1246050542 0.00001
NM_003849.4(SUCLG1):c.825+14T>C rs781113881 0.00001
NM_003849.4(SUCLG1):c.827G>T (p.Gly276Val) rs777671418 0.00001
NM_003849.4(SUCLG1):c.91T>C (p.Phe31Leu) rs1423984666 0.00001
NC_000002.11:g.(?_84650850)_(84686413_?)del
NC_000002.11:g.(?_84650870)_(84652747_?)del
NC_000002.11:g.(?_84650870)_(84686393_?)dup
NM_003849.4(SUCLG1):c.1004C>T (p.Thr335Met)
NM_003849.4(SUCLG1):c.1005G>A (p.Thr335=)
NM_003849.4(SUCLG1):c.1014+6C>A
NM_003849.4(SUCLG1):c.1015-14T>G
NM_003849.4(SUCLG1):c.1015-23CT[6]
NM_003849.4(SUCLG1):c.1015-6C>T
NM_003849.4(SUCLG1):c.119A>G (p.His40Arg)
NM_003849.4(SUCLG1):c.12C>A (p.Thr4=)
NM_003849.4(SUCLG1):c.12C>T (p.Thr4=)
NM_003849.4(SUCLG1):c.132A>G (p.Thr44=)
NM_003849.4(SUCLG1):c.137C>T (p.Ser46Phe) rs1287269389
NM_003849.4(SUCLG1):c.152A>G (p.Tyr51Cys)
NM_003849.4(SUCLG1):c.152A>T (p.Tyr51Phe) rs892512758
NM_003849.4(SUCLG1):c.159T>C (p.Asp53=) rs138470502
NM_003849.4(SUCLG1):c.169_170del (p.Lys57fs) rs1672907018
NM_003849.4(SUCLG1):c.178T>A (p.Cys60Ser)
NM_003849.4(SUCLG1):c.17C>T (p.Ala6Val)
NM_003849.4(SUCLG1):c.18C>T (p.Ala6=) rs1348896779
NM_003849.4(SUCLG1):c.193_194delinsAA (p.Gly65Asn)
NM_003849.4(SUCLG1):c.1A>C (p.Met1Leu)
NM_003849.4(SUCLG1):c.1A>G (p.Met1Val) rs755538280
NM_003849.4(SUCLG1):c.202-14C>T
NM_003849.4(SUCLG1):c.202-8C>T rs1342114001
NM_003849.4(SUCLG1):c.218A>T (p.Gln73Leu)
NM_003849.4(SUCLG1):c.240C>G (p.Thr80=)
NM_003849.4(SUCLG1):c.242A>C (p.Lys81Thr) rs564792232
NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) rs564792232
NM_003849.4(SUCLG1):c.246C>T (p.Leu82=)
NM_003849.4(SUCLG1):c.247G>A (p.Val83Ile) rs539350409
NM_003849.4(SUCLG1):c.247G>T (p.Val83Phe) rs539350409
NM_003849.4(SUCLG1):c.24C>A (p.Ala8=) rs1000084551
NM_003849.4(SUCLG1):c.24C>T (p.Ala8=)
NM_003849.4(SUCLG1):c.25G>T (p.Ala9Ser)
NM_003849.4(SUCLG1):c.264A>T (p.Pro88=)
NM_003849.4(SUCLG1):c.272G>A (p.Gly91Glu)
NM_003849.4(SUCLG1):c.284A>G (p.His95Arg)
NM_003849.4(SUCLG1):c.285T>C (p.His95=)
NM_003849.4(SUCLG1):c.318+17G>C rs1468404675
NM_003849.4(SUCLG1):c.318+19G>A
NM_003849.4(SUCLG1):c.318+9T>A rs2104256496
NM_003849.4(SUCLG1):c.319-16G>A
NM_003849.4(SUCLG1):c.319-16G>T
NM_003849.4(SUCLG1):c.319-1G>A
NM_003849.4(SUCLG1):c.319-20C>G
NM_003849.4(SUCLG1):c.319-4T>G
NM_003849.4(SUCLG1):c.337G>A (p.Ala113Thr) rs749557020
NM_003849.4(SUCLG1):c.342G>A (p.Thr114=)
NM_003849.4(SUCLG1):c.348T>C (p.Ser116=)
NM_003849.4(SUCLG1):c.34G>T (p.Ala12Ser)
NM_003849.4(SUCLG1):c.359T>G (p.Val120Gly)
NM_003849.4(SUCLG1):c.366G>A (p.Pro122=)
NM_003849.4(SUCLG1):c.383C>A (p.Ala128Asp)
NM_003849.4(SUCLG1):c.385A>G (p.Ile129Val)
NM_003849.4(SUCLG1):c.389A>G (p.Asn130Ser)
NM_003849.4(SUCLG1):c.38C>T (p.Thr13Ile)
NM_003849.4(SUCLG1):c.390T>G (p.Asn130Lys) rs2104254158
NM_003849.4(SUCLG1):c.395C>T (p.Ala132Val)
NM_003849.4(SUCLG1):c.409A>G (p.Ile137Val)
NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu) rs796052053
NM_003849.4(SUCLG1):c.435A>G (p.Glu145=)
NM_003849.4(SUCLG1):c.444C>T (p.Pro148=)
NM_003849.4(SUCLG1):c.445C>T (p.Gln149Ter)
NM_003849.4(SUCLG1):c.449A>C (p.Gln150Pro) rs2104254027
NM_003849.4(SUCLG1):c.451G>C (p.Asp151His)
NM_003849.4(SUCLG1):c.45C>T (p.Val15=)
NM_003849.4(SUCLG1):c.461G>A (p.Arg154Gln)
NM_003849.4(SUCLG1):c.464T>G (p.Val155Gly) rs1182784202
NM_003849.4(SUCLG1):c.47C>T (p.Ser16Phe) rs2104276991
NM_003849.4(SUCLG1):c.483C>T (p.Arg161=)
NM_003849.4(SUCLG1):c.501A>T (p.Leu167=)
NM_003849.4(SUCLG1):c.522A>C (p.Gly174=)
NM_003849.4(SUCLG1):c.52A>G (p.Ser18Gly)
NM_003849.4(SUCLG1):c.531+15A>G
NM_003849.4(SUCLG1):c.531+15del rs769785912
NM_003849.4(SUCLG1):c.531+9dup rs769785912
NM_003849.4(SUCLG1):c.532-11A>G
NM_003849.4(SUCLG1):c.532-12_532-10del rs760236068
NM_003849.4(SUCLG1):c.532-15T>G
NM_003849.4(SUCLG1):c.532-4T>A
NM_003849.4(SUCLG1):c.532_533delinsAA (p.Pro178Asn) rs1672764673
NM_003849.4(SUCLG1):c.549T>G (p.Ile183Met)
NM_003849.4(SUCLG1):c.563G>C (p.Gly188Ala)
NM_003849.4(SUCLG1):c.589+12_589+15del
NM_003849.4(SUCLG1):c.589+14T>C
NM_003849.4(SUCLG1):c.589+17del
NM_003849.4(SUCLG1):c.590-11C>T
NM_003849.4(SUCLG1):c.590-16A>C
NM_003849.4(SUCLG1):c.590-18G>T
NM_003849.4(SUCLG1):c.601A>G (p.Arg201Gly)
NM_003849.4(SUCLG1):c.626C>A (p.Ala209Glu)
NM_003849.4(SUCLG1):c.631C>T (p.His211Tyr)
NM_003849.4(SUCLG1):c.633C>T (p.His211=)
NM_003849.4(SUCLG1):c.63C>G (p.Leu21=)
NM_003849.4(SUCLG1):c.640A>C (p.Thr214Pro) rs35594530
NM_003849.4(SUCLG1):c.654G>A (p.Leu218=)
NM_003849.4(SUCLG1):c.65C>T (p.Ala22Val)
NM_003849.4(SUCLG1):c.666G>A (p.Leu222=)
NM_003849.4(SUCLG1):c.669C>T (p.Cys223=)
NM_003849.4(SUCLG1):c.673+19A>C
NM_003849.4(SUCLG1):c.673+19A>G
NM_003849.4(SUCLG1):c.673+1G>C
NM_003849.4(SUCLG1):c.674-18A>G rs1672616437
NM_003849.4(SUCLG1):c.681A>C (p.Gly227=)
NM_003849.4(SUCLG1):c.688C>T (p.Pro230Ser)
NM_003849.4(SUCLG1):c.692T>C (p.Phe231Ser)
NM_003849.4(SUCLG1):c.694A>G (p.Asn232Asp)
NM_003849.4(SUCLG1):c.70G>T (p.Ala24Ser) rs769982373
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)
NM_003849.4(SUCLG1):c.720C>T (p.Leu240=)
NM_003849.4(SUCLG1):c.757A>G (p.Ile253Val)
NM_003849.4(SUCLG1):c.760T>C (p.Leu254=)
NM_003849.4(SUCLG1):c.801A>G (p.Ala267=)
NM_003849.4(SUCLG1):c.825+6T>G
NM_003849.4(SUCLG1):c.826-13_826-10del rs1064793276
NM_003849.4(SUCLG1):c.826-15T>C
NM_003849.4(SUCLG1):c.826-1G>A
NM_003849.4(SUCLG1):c.835del (p.Ser279fs)
NM_003849.4(SUCLG1):c.837C>G (p.Ser279=)
NM_003849.4(SUCLG1):c.861T>G (p.Ala287=)
NM_003849.4(SUCLG1):c.871G>T (p.Ala291Ser)
NM_003849.4(SUCLG1):c.90C>T (p.Ser30=)
NM_003849.4(SUCLG1):c.915T>C (p.Ala305=) rs1672521714
NM_003849.4(SUCLG1):c.926G>C (p.Gly309Ala)
NM_003849.4(SUCLG1):c.936A>G (p.Lys312=) rs2104236652
NM_003849.4(SUCLG1):c.949G>C (p.Ala317Pro)
NM_003849.4(SUCLG1):c.969T>C (p.Val323=) rs2104236589
NM_003849.4(SUCLG1):c.97+12C>A
NM_003849.4(SUCLG1):c.97+13A>G
NM_003849.4(SUCLG1):c.97+3G>A
NM_003849.4(SUCLG1):c.97C>G (p.Leu33Val)
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-14_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-17_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-24_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-25_98-11del
NM_003849.4(SUCLG1):c.98-9A>G
NM_003849.4(SUCLG1):c.990A>G (p.Ala330=) rs1672519735

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