ClinVar Miner

List of variants studied for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome by Invitae

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ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.533-17A>C rs7850697 0.34637
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_016035.5(COQ4):c.59G>A (p.Arg20Gln) rs9697215 0.04933
NM_016035.5(COQ4):c.483G>C (p.Glu161Asp) rs141228574 0.00541
NM_016035.5(COQ4):c.614G>A (p.Arg205Gln) rs35213511 0.00411
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr) rs34043652 0.00268
NM_016035.5(COQ4):c.48G>C (p.Pro16=) rs375750495 0.00120
NM_016035.5(COQ4):c.376G>A (p.Glu126Lys) rs149398860 0.00030
NM_016035.5(COQ4):c.96C>A (p.Asp32Glu) rs545007629 0.00029
NM_016035.5(COQ4):c.767C>T (p.Ala256Val) rs565772648 0.00024
NM_016035.5(COQ4):c.648G>A (p.Ser216=) rs200848850 0.00020
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_016035.5(COQ4):c.679C>T (p.Arg227Cys) rs767665620 0.00011
NM_016035.5(COQ4):c.103G>A (p.Gly35Ser) rs141078819 0.00010
NM_016035.5(COQ4):c.461A>T (p.Tyr154Phe) rs147142262 0.00010
NM_016035.5(COQ4):c.744G>A (p.Leu248=) rs769648692 0.00009
NM_016035.5(COQ4):c.375C>T (p.Arg125=) rs375096994 0.00008
NM_016035.5(COQ4):c.627-6C>T rs371175246 0.00008
NM_016035.5(COQ4):c.202G>C (p.Asp68His) rs758522459 0.00007
NM_016035.5(COQ4):c.402C>T (p.Asn134=) rs778542323 0.00007
NM_016035.5(COQ4):c.445G>C (p.Asp149His) rs138560167 0.00006
NM_016035.5(COQ4):c.660A>T (p.Pro220=) rs145991065 0.00006
NM_016035.5(COQ4):c.18C>T (p.Arg6=) rs942212120 0.00005
NM_016035.5(COQ4):c.771A>T (p.Pro257=) rs993278939 0.00005
NM_016035.5(COQ4):c.134C>T (p.Ser45Phe) rs377735694 0.00004
NM_016035.5(COQ4):c.47C>G (p.Pro16Arg) rs775518369 0.00004
NM_016035.5(COQ4):c.611T>C (p.Ile204Thr) rs1010206891 0.00004
NM_016035.5(COQ4):c.81C>G (p.Leu27=) rs756669810 0.00004
NM_016035.5(COQ4):c.202+20G>A rs1057523311 0.00003
NM_016035.5(COQ4):c.202+4A>C rs777821562 0.00003
NM_016035.5(COQ4):c.238C>T (p.Arg80Cys) rs565198792 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 0.00003
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) rs776825296 0.00003
NM_016035.5(COQ4):c.473G>A (p.Arg158Gln) rs779805523 0.00003
NM_016035.5(COQ4):c.12G>C (p.Leu4=) rs756609628 0.00002
NM_016035.5(COQ4):c.144G>T (p.Gln48His) rs765791496 0.00002
NM_016035.5(COQ4):c.29G>C (p.Arg10Pro) rs746608515 0.00002
NM_016035.5(COQ4):c.532+16C>T rs1473752267 0.00002
NM_016035.5(COQ4):c.580A>G (p.Met194Val) rs150739190 0.00002
NM_016035.5(COQ4):c.681C>T (p.Arg227=) rs147390140 0.00002
NM_016035.5(COQ4):c.701A>G (p.Asn234Ser) rs139974385 0.00002
NM_016035.5(COQ4):c.71-5C>G rs760080044 0.00002
NM_016035.5(COQ4):c.780C>T (p.His260=) rs200203275 0.00002
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) rs766317663 0.00001
NM_016035.5(COQ4):c.202+9G>A rs776783243 0.00001
NM_016035.5(COQ4):c.205A>G (p.Met69Val) rs146533802 0.00001
NM_016035.5(COQ4):c.210C>T (p.Val70=) rs776362737 0.00001
NM_016035.5(COQ4):c.252C>A (p.Val84=) rs1415325503 0.00001
NM_016035.5(COQ4):c.299+14C>T rs759277069 0.00001
NM_016035.5(COQ4):c.300-2A>G rs141303335 0.00001
NM_016035.5(COQ4):c.301G>T (p.Glu101Ter) rs748924643 0.00001
NM_016035.5(COQ4):c.330C>T (p.Leu110=) rs758745776 0.00001
NM_016035.5(COQ4):c.356C>T (p.Pro119Leu) rs773943371 0.00001
NM_016035.5(COQ4):c.385C>T (p.Arg129Cys) rs139770523 0.00001
NM_016035.5(COQ4):c.393G>A (p.Leu131=) rs1347240001 0.00001
NM_016035.5(COQ4):c.394G>C (p.Asp132His) rs754445455 0.00001
NM_016035.5(COQ4):c.421C>T (p.Arg141Ter) rs775607037 0.00001
NM_016035.5(COQ4):c.42G>T (p.Gly14=) rs769828789 0.00001
NM_016035.5(COQ4):c.44T>C (p.Leu15Pro) rs879324921 0.00001
NM_016035.5(COQ4):c.468T>C (p.Ile156=) rs1199755377 0.00001
NM_016035.5(COQ4):c.529C>T (p.Leu177=) rs1352302755 0.00001
NM_016035.5(COQ4):c.532+12C>T rs1195632575 0.00001
NM_016035.5(COQ4):c.541G>A (p.Val181Met) rs1430241934 0.00001
NM_016035.5(COQ4):c.60G>C (p.Arg20=) rs1465509642 0.00001
NM_016035.5(COQ4):c.675C>T (p.Asn225=) rs1184282546 0.00001
NM_016035.5(COQ4):c.676G>A (p.Gly226Arg) rs1363468440 0.00001
NM_016035.5(COQ4):c.689C>A (p.Pro230Gln) rs1016089045 0.00001
NM_016035.5(COQ4):c.70+10G>C rs766897693 0.00001
NM_016035.5(COQ4):c.70+2C>G rs767839639 0.00001
NM_016035.5(COQ4):c.71-3C>T rs1832236459 0.00001
NM_016035.5(COQ4):c.735G>C (p.Leu245=) rs745506847 0.00001
NM_016035.5(COQ4):c.752A>T (p.Glu251Val) rs764026213 0.00001
NC_000009.11:g.(?_130911805)_(131302617_?)dup
NC_000009.11:g.(?_131085138)_(131085446_?)dup
NC_000009.11:g.(?_131087402)_(141016451_?)dup
NC_000009.12:g.(?_127612384)_(128566997_?)del
NM_016035.5(COQ4):c.100G>A (p.Ala34Thr)
NM_016035.5(COQ4):c.103G>C (p.Gly35Arg) rs141078819
NM_016035.5(COQ4):c.105C>A (p.Gly35=)
NM_016035.5(COQ4):c.107C>T (p.Pro36Leu)
NM_016035.5(COQ4):c.10C>T (p.Leu4=)
NM_016035.5(COQ4):c.115T>G (p.Ser39Ala) rs1222487313
NM_016035.5(COQ4):c.117G>C (p.Ser39=)
NM_016035.5(COQ4):c.120C>T (p.His40=)
NM_016035.5(COQ4):c.126C>T (p.Leu42=) rs1309341226
NM_016035.5(COQ4):c.130_137del (p.Thr44fs)
NM_016035.5(COQ4):c.132C>G (p.Thr44=)
NM_016035.5(COQ4):c.134C>G (p.Ser45Cys)
NM_016035.5(COQ4):c.137C>G (p.Pro46Arg) rs566983104
NM_016035.5(COQ4):c.142C>T (p.Gln48Ter)
NM_016035.5(COQ4):c.149= (p.Gly50=) rs3003601
NM_016035.5(COQ4):c.149G>C (p.Gly50Ala) rs3003601
NM_016035.5(COQ4):c.153G>A (p.Leu51=)
NM_016035.5(COQ4):c.17G>A (p.Arg6His) rs371409929
NM_016035.5(COQ4):c.180G>A (p.Ala60=)
NM_016035.5(COQ4):c.185A>G (p.Tyr62Cys)
NM_016035.5(COQ4):c.192C>A (p.Pro64=)
NM_016035.5(COQ4):c.196C>G (p.Arg66Gly)
NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln) rs886040973
NM_016035.5(COQ4):c.19C>T (p.Pro7Ser)
NM_016035.5(COQ4):c.19_20del (p.Pro7fs) rs909428117
NM_016035.5(COQ4):c.202+14C>T
NM_016035.5(COQ4):c.202+4A>G
NM_016035.5(COQ4):c.202+8C>A rs771115922
NM_016035.5(COQ4):c.202+9G>T
NM_016035.5(COQ4):c.203-12C>T
NM_016035.5(COQ4):c.203-15T>C
NM_016035.5(COQ4):c.203-16G>A
NM_016035.5(COQ4):c.203-17C>G rs767523881
NM_016035.5(COQ4):c.203-17C>T
NM_016035.5(COQ4):c.203-8C>G
NM_016035.5(COQ4):c.223G>C (p.Glu75Gln) rs1352310924
NM_016035.5(COQ4):c.223G>T (p.Glu75Ter)
NM_016035.5(COQ4):c.23T>A (p.Val8Asp)
NM_016035.5(COQ4):c.23_33del (p.Val8fs) rs886041549
NM_016035.5(COQ4):c.240C>T (p.Arg80=)
NM_016035.5(COQ4):c.244C>T (p.Leu82=)
NM_016035.5(COQ4):c.246G>A (p.Leu82=)
NM_016035.5(COQ4):c.24C>T (p.Val8=)
NM_016035.5(COQ4):c.262C>G (p.Gln88Glu)
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp) rs779568890
NM_016035.5(COQ4):c.285T>C (p.Gly95=)
NM_016035.5(COQ4):c.286G>A (p.Ala96Thr) rs770626680
NM_016035.5(COQ4):c.28C>T (p.Arg10Cys)
NM_016035.5(COQ4):c.299+12C>T
NM_016035.5(COQ4):c.299+17_299+24del rs1428001145
NM_016035.5(COQ4):c.299+1G>A
NM_016035.5(COQ4):c.2T>G (p.Met1Arg)
NM_016035.5(COQ4):c.300-11T>C
NM_016035.5(COQ4):c.300-8C>T
NM_016035.5(COQ4):c.300G>A (p.Gln100=)
NM_016035.5(COQ4):c.310C>T (p.Arg104Trp)
NM_016035.5(COQ4):c.311G>A (p.Arg104Gln)
NM_016035.5(COQ4):c.318G>C (p.Ser106=)
NM_016035.5(COQ4):c.31C>A (p.Arg11=)
NM_016035.5(COQ4):c.324C>T (p.Ser108=) rs765741653
NM_016035.5(COQ4):c.32G>C (p.Arg11Pro) rs770687111
NM_016035.5(COQ4):c.331G>A (p.Asp111Asn) rs530213004
NM_016035.5(COQ4):c.334C>T (p.Leu112=)
NM_016035.5(COQ4):c.340A>G (p.Lys114Glu) rs1564390909
NM_016035.5(COQ4):c.348G>A (p.Gln116=)
NM_016035.5(COQ4):c.352C>G (p.Leu118Val)
NM_016035.5(COQ4):c.357G>A (p.Pro119=) rs138917651
NM_016035.5(COQ4):c.357G>T (p.Pro119=) rs138917651
NM_016035.5(COQ4):c.366C>A (p.Ser122=)
NM_016035.5(COQ4):c.369C>T (p.Leu123=)
NM_016035.5(COQ4):c.374G>A (p.Arg125His)
NM_016035.5(COQ4):c.378G>A (p.Glu126=)
NM_016035.5(COQ4):c.385dup (p.Arg129fs) rs1440543613
NM_016035.5(COQ4):c.397G>T (p.Val133Leu) rs1272648378
NM_016035.5(COQ4):c.402+13C>T
NM_016035.5(COQ4):c.402+1G>A rs747779231
NM_016035.5(COQ4):c.402+20G>A
NM_016035.5(COQ4):c.411C>T (p.Ser137=)
NM_016035.5(COQ4):c.417C>A (p.Asp139Glu) rs1832424038
NM_016035.5(COQ4):c.423A>G (p.Arg141=)
NM_016035.5(COQ4):c.426A>T (p.Ala142=)
NM_016035.5(COQ4):c.429C>T (p.Pro143=)
NM_016035.5(COQ4):c.432C>A (p.Thr144=)
NM_016035.5(COQ4):c.435C>G (p.Arg145=)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.438C>T (p.Phe146=)
NM_016035.5(COQ4):c.443A>G (p.Asp148Gly)
NM_016035.5(COQ4):c.461A>G (p.Tyr154Cys) rs147142262
NM_016035.5(COQ4):c.482A>G (p.Glu161Gly)
NM_016035.5(COQ4):c.488A>G (p.His163Arg)
NM_016035.5(COQ4):c.489C>T (p.His163=)
NM_016035.5(COQ4):c.490G>A (p.Asp164Asn)
NM_016035.5(COQ4):c.493A>G (p.Met165Val)
NM_016035.5(COQ4):c.501C>T (p.His167=) rs2131234837
NM_016035.5(COQ4):c.509T>A (p.Leu170Gln)
NM_016035.5(COQ4):c.50G>A (p.Gly17Asp) rs1479693218
NM_016035.5(COQ4):c.522C>T (p.Thr174=)
NM_016035.5(COQ4):c.532+9C>T
NM_016035.5(COQ4):c.533-11C>T rs1832437101
NM_016035.5(COQ4):c.540C>T (p.Ile180=)
NM_016035.5(COQ4):c.54A>T (p.Leu18=)
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser) rs568200779
NM_016035.5(COQ4):c.585C>T (p.Cys195=)
NM_016035.5(COQ4):c.600C>T (p.Phe200=)
NM_016035.5(COQ4):c.602T>G (p.Phe201Cys)
NM_016035.5(COQ4):c.613C>T (p.Arg205Ter)
NM_016035.5(COQ4):c.626+10C>G
NM_016035.5(COQ4):c.626+17T>C
NM_016035.5(COQ4):c.627-7C>T
NM_016035.5(COQ4):c.633G>C (p.Leu211=)
NM_016035.5(COQ4):c.633G>T (p.Leu211=)
NM_016035.5(COQ4):c.639G>C (p.Val213=)
NM_016035.5(COQ4):c.642G>C (p.Leu214=)
NM_016035.5(COQ4):c.649G>A (p.Glu217Lys) rs762877436
NM_016035.5(COQ4):c.64G>A (p.Ala22Thr)
NM_016035.5(COQ4):c.662G>A (p.Trp221Ter)
NM_016035.5(COQ4):c.666C>T (p.Ala222=)
NM_016035.5(COQ4):c.669T>C (p.Val223=) rs1554797924
NM_016035.5(COQ4):c.67dup (p.Ala23fs) rs1554796655
NM_016035.5(COQ4):c.683G>C (p.Arg228Thr)
NM_016035.5(COQ4):c.70+10G>A
NM_016035.5(COQ4):c.70+11C>T
NM_016035.5(COQ4):c.70+15G>A
NM_016035.5(COQ4):c.70+18C>T
NM_016035.5(COQ4):c.70+1G>A
NM_016035.5(COQ4):c.70+6T>A
NM_016035.5(COQ4):c.70+7G>A
NM_016035.5(COQ4):c.70+7G>C
NM_016035.5(COQ4):c.71-19C>T
NM_016035.5(COQ4):c.715C>T (p.Arg239Trp) rs1351636595
NM_016035.5(COQ4):c.746G>A (p.Arg249Gln)
NM_016035.5(COQ4):c.748G>A (p.Glu250Lys)
NM_016035.5(COQ4):c.750G>A (p.Glu250=)
NM_016035.5(COQ4):c.765A>G (p.Thr255=)
NM_016035.5(COQ4):c.772C>T (p.Pro258Ser)
NM_016035.5(COQ4):c.774C>T (p.Pro258=) rs1588546502
NM_016035.5(COQ4):c.781G>A (p.Val261Ile)
NM_016035.5(COQ4):c.792G>A (p.Leu264=)
NM_016035.5(COQ4):c.81C>A (p.Leu27=) rs756669810
NM_016035.5(COQ4):c.85G>C (p.Ala29Pro) rs113604139
NM_016035.5(COQ4):c.91A>T (p.Ser31Cys)
NM_016035.5(COQ4):c.92G>A (p.Ser31Asn)
NM_016035.5(COQ4):c.94G>C (p.Asp32His)
NM_016035.5(COQ4):c.94G>T (p.Asp32Tyr)

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