ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial DNA depletion syndrome 9 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met) rs201224138 0.00025
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) rs149809280 0.00019
NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) rs141331864 0.00013
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.116G>A (p.Arg39Gln) rs372512876 0.00006
NM_003849.4(SUCLG1):c.298G>C (p.Val100Leu) rs140441011 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.397A>T (p.Ile133Phe) rs575207227 0.00005
NM_003849.4(SUCLG1):c.365C>T (p.Pro122Leu) rs201717664 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.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.11C>T (p.Thr4Ile) rs766814700 0.00001
NM_003849.4(SUCLG1):c.202-3C>T rs769207281 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.502A>G (p.Ile168Val) rs763324017 0.00001
NM_003849.4(SUCLG1):c.640A>G (p.Thr214Ala) rs35594530 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.827G>T (p.Gly276Val) rs777671418 0.00001
NM_003849.4(SUCLG1):c.91T>C (p.Phe31Leu) rs1423984666 0.00001
NC_000002.11:g.(?_84650870)_(84686393_?)dup
NM_003849.4(SUCLG1):c.1004C>T (p.Thr335Met)
NM_003849.4(SUCLG1):c.1014+6C>A
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.178T>A (p.Cys60Ser)
NM_003849.4(SUCLG1):c.17C>T (p.Ala6Val)
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.218A>T (p.Gln73Leu)
NM_003849.4(SUCLG1):c.242A>C (p.Lys81Thr) rs564792232
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.25G>T (p.Ala9Ser)
NM_003849.4(SUCLG1):c.272G>A (p.Gly91Glu)
NM_003849.4(SUCLG1):c.284A>G (p.His95Arg)
NM_003849.4(SUCLG1):c.337G>A (p.Ala113Thr) rs749557020
NM_003849.4(SUCLG1):c.34G>T (p.Ala12Ser)
NM_003849.4(SUCLG1):c.359T>G (p.Val120Gly)
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.449A>C (p.Gln150Pro) rs2104254027
NM_003849.4(SUCLG1):c.451G>C (p.Asp151His)
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.52A>G (p.Ser18Gly)
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.601A>G (p.Arg201Gly)
NM_003849.4(SUCLG1):c.631C>T (p.His211Tyr)
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.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.757A>G (p.Ile253Val)
NM_003849.4(SUCLG1):c.825+6T>G
NM_003849.4(SUCLG1):c.871G>T (p.Ala291Ser)
NM_003849.4(SUCLG1):c.926G>C (p.Gly309Ala)
NM_003849.4(SUCLG1):c.949G>C (p.Ala317Pro)
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.98-9A>G

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