ClinVar Miner

List of variants reported as uncertain significance for Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

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ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.376G>A (p.Glu126Lys) rs149398860 0.00030
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.375C>T (p.Arg125=) rs375096994 0.00008
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.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.238C>T (p.Arg80Cys) rs565198792 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 0.00003
NM_016035.5(COQ4):c.473G>A (p.Arg158Gln) rs779805523 0.00003
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.533G>A (p.Gly178Glu) rs754865584 0.00002
NM_016035.5(COQ4):c.580A>G (p.Met194Val) rs150739190 0.00002
NM_016035.5(COQ4):c.701A>G (p.Asn234Ser) rs139974385 0.00002
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) rs766317663 0.00001
NM_016035.5(COQ4):c.1A>G (p.Met1Val) rs751764908 0.00001
NM_016035.5(COQ4):c.205A>G (p.Met69Val) rs146533802 0.00001
NM_016035.5(COQ4):c.317C>T (p.Ser106Leu) rs767379261 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.394G>C (p.Asp132His) rs754445455 0.00001
NM_016035.5(COQ4):c.44T>C (p.Leu15Pro) rs879324921 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016035.5(COQ4):c.532+6T>A rs1320816826 0.00001
NM_016035.5(COQ4):c.541G>A (p.Val181Met) rs1430241934 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.71-3C>T rs1832236459 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
NM_016035.5(COQ4):c.100G>A (p.Ala34Thr)
NM_016035.5(COQ4):c.103G>C (p.Gly35Arg) rs141078819
NM_016035.5(COQ4):c.107C>T (p.Pro36Leu)
NM_016035.5(COQ4):c.115T>G (p.Ser39Ala) rs1222487313
NM_016035.5(COQ4):c.134C>G (p.Ser45Cys)
NM_016035.5(COQ4):c.137C>G (p.Pro46Arg) rs566983104
NM_016035.5(COQ4):c.17G>A (p.Arg6His) rs371409929
NM_016035.5(COQ4):c.185A>G (p.Tyr62Cys)
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.202+4A>G
NM_016035.5(COQ4):c.223G>C (p.Glu75Gln) rs1352310924
NM_016035.5(COQ4):c.23T>A (p.Val8Asp)
NM_016035.5(COQ4):c.246G>A (p.Leu82=)
NM_016035.5(COQ4):c.262C>G (p.Gln88Glu)
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp) rs779568890
NM_016035.5(COQ4):c.286G>A (p.Ala96Thr) rs770626680
NM_016035.5(COQ4):c.28C>T (p.Arg10Cys)
NM_016035.5(COQ4):c.2T>G (p.Met1Arg)
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.32G>C (p.Arg11Pro) rs770687111
NM_016035.5(COQ4):c.331G>A (p.Asp111Asn) rs530213004
NM_016035.5(COQ4):c.340A>G (p.Lys114Glu) rs1564390909
NM_016035.5(COQ4):c.352C>G (p.Leu118Val)
NM_016035.5(COQ4):c.374G>A (p.Arg125His)
NM_016035.5(COQ4):c.397G>T (p.Val133Leu) rs1272648378
NM_016035.5(COQ4):c.400A>G (p.Asn134Asp)
NM_016035.5(COQ4):c.417C>A (p.Asp139Glu) rs1832424038
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
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.490G>A (p.Asp164Asn)
NM_016035.5(COQ4):c.493A>G (p.Met165Val)
NM_016035.5(COQ4):c.509T>A (p.Leu170Gln)
NM_016035.5(COQ4):c.50G>A (p.Gly17Asp) rs1479693218
NM_016035.5(COQ4):c.550T>C (p.Trp184Arg) rs2131235893
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser) rs568200779
NM_016035.5(COQ4):c.602T>G (p.Phe201Cys)
NM_016035.5(COQ4):c.649G>A (p.Glu217Lys) rs762877436
NM_016035.5(COQ4):c.64G>A (p.Ala22Thr)
NM_016035.5(COQ4):c.683G>C (p.Arg228Thr)
NM_016035.5(COQ4):c.70+6T>A
NM_016035.5(COQ4):c.715C>T (p.Arg239Trp) rs1351636595
NM_016035.5(COQ4):c.743T>C (p.Leu248Pro)
NM_016035.5(COQ4):c.746G>A (p.Arg249Gln)
NM_016035.5(COQ4):c.748G>A (p.Glu250Lys)
NM_016035.5(COQ4):c.772C>T (p.Pro258Ser)
NM_016035.5(COQ4):c.781G>A (p.Val261Ile)
NM_016035.5(COQ4):c.794C>T (p.Ala265Val)
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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