ClinVar Miner

List of variants in gene NDUFS1 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_005006.7(NDUFS1):c.*151T>C rs533179154
NM_005006.7(NDUFS1):c.*158T>C rs3770989
NM_005006.7(NDUFS1):c.*256C>T rs10198830
NM_005006.7(NDUFS1):c.*27C>T rs369746514
NM_005006.7(NDUFS1):c.*336G>T rs1044120
NM_005006.7(NDUFS1):c.*399G>A rs77000728
NM_005006.7(NDUFS1):c.*438C>T rs561980718
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*561T>C rs146538309
NM_005006.7(NDUFS1):c.*641A>G rs886055501
NM_005006.7(NDUFS1):c.*733A>G rs6707707
NM_005006.7(NDUFS1):c.*756A>T rs755460274
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*866A>C rs749790811
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.*966A>G rs755776989
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly)
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-25dup rs34184317
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.7(NDUFS1):c.421-7A>G rs192949406
NM_005006.7(NDUFS1):c.551+14C>A rs10206644
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) rs1485032272
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890

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