List of variants in gene NDUFS1 reported as uncertain significance for Mitochondrial complex I deficiency, nuclear type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=)	rs2230892	0.01121
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.826C>T (p.Arg276Cys)	rs142941808	0.00024
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.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.*27C>T	rs369746514	0.00012
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.1969G>A (p.Asp657Asn)	rs769276632	0.00006
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala)	rs765436915	0.00004
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.476C>T (p.Ala159Val)	rs764520533	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.1363A>G (p.Ile455Val)	rs758095913	0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr)	rs1434275816	0.00001
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)	rs762228459	0.00001
NM_005006.7(NDUFS1):c.2092+9T>C	rs1173129542	0.00001
NM_005006.7(NDUFS1):c.261+6T>C	rs748906579	0.00001
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val)	rs763697779	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.*459A>G	rs1691173843
NM_005006.7(NDUFS1):c.*504G>A	rs548641207
NM_005006.7(NDUFS1):c.*864G>A	rs1691159722
NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del)	rs1559055100
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe)	rs78042826
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.986T>C (p.Met329Thr)	rs774232299

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