ClinVar Miner

List of variants in gene NDUFS1 studied for Leigh syndrome

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.*336G>T rs1044120 0.52989
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_005006.7(NDUFS1):c.*733A>G rs6707707 0.03241
NM_005006.7(NDUFS1):c.*256C>T rs10198830 0.02838
NM_005006.7(NDUFS1):c.551+14C>A rs10206644 0.02838
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890 0.02835
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888 0.02420
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_005006.7(NDUFS1):c.*341A>G rs150214409 0.00460
NM_005006.7(NDUFS1):c.*426T>G rs114402169 0.00369
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097 0.00369
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_005006.7(NDUFS1):c.*561T>C rs146538309 0.00141
NM_005006.7(NDUFS1):c.*438C>T rs561980718 0.00057
NM_005006.7(NDUFS1):c.*151T>C rs533179154 0.00052
NM_005006.7(NDUFS1):c.*938C>T rs780498090 0.00049
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_005006.7(NDUFS1):c.*966A>G rs755776989 0.00021
NM_005006.7(NDUFS1):c.*130A>C rs200736574 0.00019
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) rs148726142 0.00018
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_005006.7(NDUFS1):c.*866A>C rs749790811 0.00014
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) rs138887128 0.00009
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) rs773111037 0.00009
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00006
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) rs769276632 0.00006
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915 0.00004
NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu) rs751150787 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502 0.00002
NM_005006.7(NDUFS1):c.*641A>G rs886055501 0.00001
NM_005006.7(NDUFS1):c.*756A>T rs755460274 0.00001
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln) rs776114731 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) rs1434275816 0.00001
NM_005006.7(NDUFS1):c.261+6T>C rs748906579 0.00001
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) rs780235386 0.00001
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275 0.00001
NM_005006.7(NDUFS1):c.63T>C (p.Val21=) rs756632601 0.00001
NM_005006.7(NDUFS1):c.*1077A>T rs917604810
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*459A>G rs1691173843
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A rs1691159722
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) rs78042826
NM_005006.7(NDUFS1):c.1393-7_1393-3del rs1559047521
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-126TAGA[8] rs3217140
NM_005006.7(NDUFS1):c.154-126TAGA[9] rs3217140
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-15dup rs34184317
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) rs1367512688
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) rs1692265722
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg) rs747249702
NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp) rs1575984450
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) rs774232299

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