ClinVar Miner

List of variants reported as likely benign for neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.-20C>G rs372363685 0.00460
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.744G>A (p.Leu248=) rs769648692 0.00009
NM_016035.5(COQ4):c.627-6C>T rs371175246 0.00008
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.81C>G (p.Leu27=) rs756669810 0.00004
NM_016035.5(COQ4):c.202+20G>A rs1057523311 0.00003
NM_016035.5(COQ4):c.12G>C (p.Leu4=) rs756609628 0.00002
NM_016035.5(COQ4):c.532+16C>T rs1473752267 0.00002
NM_016035.5(COQ4):c.681C>T (p.Arg227=) rs147390140 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.202+9G>A rs776783243 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.330C>T (p.Leu110=) rs758745776 0.00001
NM_016035.5(COQ4):c.393G>A (p.Leu131=) rs1347240001 0.00001
NM_016035.5(COQ4):c.42G>T (p.Gly14=) rs769828789 0.00001
NM_016035.5(COQ4):c.456A>T (p.Leu152=) rs748087262 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.60G>C (p.Arg20=) rs1465509642 0.00001
NM_016035.5(COQ4):c.675C>T (p.Asn225=) rs1184282546 0.00001
NM_016035.5(COQ4):c.70+10G>C rs766897693 0.00001
NM_016035.5(COQ4):c.735G>C (p.Leu245=) rs745506847 0.00001
NM_016035.5(COQ4):c.105C>A (p.Gly35=)
NM_016035.5(COQ4):c.10C>T (p.Leu4=)
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.132C>G (p.Thr44=)
NM_016035.5(COQ4):c.153G>A (p.Leu51=)
NM_016035.5(COQ4):c.180G>A (p.Ala60=)
NM_016035.5(COQ4):c.192C>A (p.Pro64=)
NM_016035.5(COQ4):c.202+14C>T
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.203-18C>T
NM_016035.5(COQ4):c.203-8C>G
NM_016035.5(COQ4):c.216T>C (p.Val72=)
NM_016035.5(COQ4):c.21T>C (p.Pro7=)
NM_016035.5(COQ4):c.240C>T (p.Arg80=)
NM_016035.5(COQ4):c.244C>T (p.Leu82=)
NM_016035.5(COQ4):c.24C>T (p.Val8=)
NM_016035.5(COQ4):c.285T>C (p.Gly95=)
NM_016035.5(COQ4):c.299+11G>A
NM_016035.5(COQ4):c.299+12C>T
NM_016035.5(COQ4):c.299+17_299+24del rs1428001145
NM_016035.5(COQ4):c.300-11T>C
NM_016035.5(COQ4):c.300-16A>G
NM_016035.5(COQ4):c.300-8C>T
NM_016035.5(COQ4):c.318G>C (p.Ser106=)
NM_016035.5(COQ4):c.31C>A (p.Arg11=)
NM_016035.5(COQ4):c.321A>G (p.Thr107=)
NM_016035.5(COQ4):c.324C>T (p.Ser108=) rs765741653
NM_016035.5(COQ4):c.334C>T (p.Leu112=)
NM_016035.5(COQ4):c.348G>A (p.Gln116=)
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.378G>A (p.Glu126=)
NM_016035.5(COQ4):c.402+13C>T
NM_016035.5(COQ4):c.402+20G>A
NM_016035.5(COQ4):c.403-4T>C
NM_016035.5(COQ4):c.408C>A (p.Val136=)
NM_016035.5(COQ4):c.411C>T (p.Ser137=)
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.438C>T (p.Phe146=)
NM_016035.5(COQ4):c.489C>T (p.His163=)
NM_016035.5(COQ4):c.501C>T (p.His167=) rs2131234837
NM_016035.5(COQ4):c.522C>T (p.Thr174=)
NM_016035.5(COQ4):c.532+9C>A
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.585C>T (p.Cys195=)
NM_016035.5(COQ4):c.600C>T (p.Phe200=)
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.666C>T (p.Ala222=)
NM_016035.5(COQ4):c.669T>C (p.Val223=) rs1554797924
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+7G>A
NM_016035.5(COQ4):c.70+7G>C
NM_016035.5(COQ4):c.71-12C>T
NM_016035.5(COQ4):c.71-19C>T
NM_016035.5(COQ4):c.71-7C>T
NM_016035.5(COQ4):c.750G>A (p.Glu250=)
NM_016035.5(COQ4):c.765A>G (p.Thr255=)
NM_016035.5(COQ4):c.774C>T (p.Pro258=) rs1588546502
NM_016035.5(COQ4):c.792G>A (p.Leu264=)
NM_016035.5(COQ4):c.81C>A (p.Leu27=) rs756669810
NM_016035.5(COQ4):c.81C>T (p.Leu27=)

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