ClinVar Miner

List of variants in gene NDUFS1 reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 5

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364 0.00195
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426 0.00016
NM_005006.7(NDUFS1):c.325T>A (p.Ser109Thr) rs769616417 0.00007
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00006
NM_005006.7(NDUFS1):c.1321A>G (p.Thr441Ala) rs769167029 0.00003
NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln) rs767457281 0.00002
NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile) rs777102927 0.00001
NM_005006.7(NDUFS1):c.1554-1G>A rs1056433452 0.00001
NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile) rs771012852 0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225 0.00001
NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys)
NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)
NM_005006.7(NDUFS1):c.134C>A (p.Pro45Gln)
NM_005006.7(NDUFS1):c.1546C>T (p.Leu516Phe)
NM_005006.7(NDUFS1):c.1651G>T (p.Asp551Tyr)
NM_005006.7(NDUFS1):c.1776G>T (p.Lys592Asn)
NM_005006.7(NDUFS1):c.184C>T (p.Arg62Ter) rs2105978220
NM_005006.7(NDUFS1):c.1990T>G (p.Tyr664Asp)
NM_005006.7(NDUFS1):c.389T>A (p.Ile130Asn)
NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr) rs1458382625
NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly)
NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr)
NM_005006.7(NDUFS1):c.586G>A (p.Gly196Arg) rs2105974048
NM_005006.7(NDUFS1):c.737+1G>A rs935776676
NM_005006.7(NDUFS1):c.993G>T (p.Gln331His)

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