ClinVar Miner

List of variants studied for obsolete Leigh syndrome with nephrotic syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_020381.4(PDSS2):c.876+48C>T rs3734677 0.16221
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
NM_020381.4(PDSS2):c.431+17C>T rs192411971 0.00141
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr) rs550949678 0.00102
NM_020381.4(PDSS2):c.1009-14C>G rs188095740 0.00084
NM_001358921.2(COQ2):c.651G>A (p.Ala217=) rs199581249 0.00076
NM_001358921.2(COQ2):c.1044C>T (p.Val348=) rs6834269 0.00057
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) rs146983090 0.00054
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp) rs886059669 0.00048
NM_001358921.2(COQ2):c.625T>C (p.Leu209=) rs367968754 0.00043
NM_020381.4(PDSS2):c.877-20C>T rs138097933 0.00043
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) rs767013819 0.00029
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) rs201388841 0.00027
NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp) rs376396608 0.00016
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) rs200217650 0.00015
NM_001358921.2(COQ2):c.-23C>G rs368891722 0.00013
NM_020381.4(PDSS2):c.702+16G>A rs200017192 0.00012
NM_020381.4(PDSS2):c.81G>A (p.Pro27=) rs754281828 0.00010
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) rs372949213 0.00007
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_020381.4(PDSS2):c.1002C>T (p.Ile334=) rs375546963 0.00006
NM_020381.4(PDSS2):c.1008+17C>T rs760414222 0.00006
NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys) rs370257390 0.00006
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) rs374567167 0.00005
NM_020381.4(PDSS2):c.50C>T (p.Ser17Leu) rs373021095 0.00005
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg) rs981288139 0.00004
NM_015697.9(COQ2):c.57G>T (p.Gln19His) rs764905680 0.00004
NM_015697.9(COQ2):c.94G>A (p.Ala32Thr) rs770651250 0.00004
NM_001358921.2(COQ2):c.368G>A (p.Arg123His) rs752363398 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_001358921.2(COQ2):c.912C>T (p.Tyr304=) rs764986740 0.00003
NM_020381.4(PDSS2):c.382G>A (p.Val128Met) rs201645466 0.00003
NM_001358921.2(COQ2):c.182C>T (p.Ala61Val) rs1233395596 0.00002
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) rs553681443 0.00002
NM_001358921.2(COQ2):c.831G>A (p.Pro277=) rs757390151 0.00002
NM_001358921.2(COQ2):c.885G>A (p.Val295=) rs533968602 0.00002
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) rs566845170 0.00002
NM_015697.9(COQ2):c.115A>T (p.Thr39Ser) rs369705200 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_020381.4(PDSS2):c.348G>T (p.Val116=) rs779485875 0.00002
NM_001358921.2(COQ2):c.165G>C (p.Gln55His) rs747231025 0.00001
NM_001358921.2(COQ2):c.253+4A>T rs907149421 0.00001
NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu) rs1208562247 0.00001
NM_001358921.2(COQ2):c.762+14C>A rs587780909 0.00001
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val) rs942463668 0.00001
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) rs771166601 0.00001
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu) rs371993270 0.00001
NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter) rs750925071 0.00001
NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu) rs766591347 0.00001
NM_020381.4(PDSS2):c.488G>A (p.Arg163His) rs142617068 0.00001
NM_020381.4(PDSS2):c.500A>G (p.Asn167Ser) rs201218141 0.00001
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu) rs372737420 0.00001
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) rs118203955 0.00001
NM_001195248.2(APTX):c.-5+2T>G rs1563993041
NM_001358921.2(COQ2):c.-27C>T
NM_001358921.2(COQ2):c.-2C>G rs573669024
NM_001358921.2(COQ2):c.1047del (p.Asn351fs) rs750710187
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) rs765403087
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) rs1577993720
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) rs863223935
NM_001358921.2(COQ2):c.254-2A>T
NM_001358921.2(COQ2):c.298G>A (p.Ala100Thr)
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) rs1577986966
NM_001358921.2(COQ2):c.542+12G>A rs369421547
NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg) rs1161445886
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) rs2126177139
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) rs121918230
NM_001358921.2(COQ2):c.762+1G>A
NM_001358921.2(COQ2):c.762+1G>T rs767624218
NM_001358921.2(COQ2):c.797C>G (p.Ser266Ter)
NM_001358921.2(COQ2):c.889A>G (p.Ser297Gly)
NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln) rs1397649685
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) rs752575160
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015697.9(COQ2):c.58C>T (p.Pro20Ser)
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015697.9(COQ2):c.97C>T (p.His33Tyr) rs1735431555
NM_020247.5(COQ8A):c.*72dup rs1558212305
NM_020247.5(COQ8A):c.280_284del (p.Ser95fs) rs1658479678
NM_020381.4(PDSS2):c.1042-1G>A
NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)
NM_020381.4(PDSS2):c.1134C>T (p.Ser378=) rs543231659
NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp) rs1236270228
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)
NM_020381.4(PDSS2):c.837G>A (p.Met279Ile) rs753476156

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