ClinVar Miner

List of variants in gene NDUFS1 reported as uncertain significance for not provided

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Gene type:
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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_005006.7(NDUFS1):c.-5+236T>C rs184505364 0.00195
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185 0.00047
NM_005006.7(NDUFS1):c.1061T>A (p.Leu354His) rs139690694 0.00034
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.738-20A>G rs200128097 0.00019
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.1186G>A (p.Glu396Lys) rs141724890 0.00009
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.325T>A (p.Ser109Thr) rs769616417 0.00007
NM_005006.7(NDUFS1):c.1699A>G (p.Ile567Val) rs147685849 0.00005
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.1321A>G (p.Thr441Ala) rs769167029 0.00003
NM_005006.7(NDUFS1):c.153+6C>G rs1051428500 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_005006.7(NDUFS1):c.1285G>A (p.Val429Met) rs200397416 0.00002
NM_005006.7(NDUFS1):c.1412A>G (p.Lys471Arg) rs772128142 0.00002
NM_005006.7(NDUFS1):c.1853A>G (p.Glu618Gly) rs753977755 0.00002
NM_005006.7(NDUFS1):c.185G>A (p.Arg62Gln) rs201034481 0.00002
NM_005006.7(NDUFS1):c.2084A>G (p.Tyr695Cys) rs773465401 0.00002
NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val) rs764520533 0.00002
NM_005006.7(NDUFS1):c.502T>C (p.Leu168=) rs759656684 0.00002
NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln) rs767457281 0.00002
NM_005006.7(NDUFS1):c.974G>A (p.Arg325His) rs773632832 0.00002
NM_005006.7(NDUFS1):c.100G>C (p.Val34Leu) rs1559065188 0.00001
NM_005006.7(NDUFS1):c.1076A>G (p.Asn359Ser) rs1254059933 0.00001
NM_005006.7(NDUFS1):c.1171A>G (p.Ile391Val) rs779439150 0.00001
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln) rs776114731 0.00001
NM_005006.7(NDUFS1):c.1346C>T (p.Pro449Leu) rs781249832 0.00001
NM_005006.7(NDUFS1):c.1349A>G (p.Lys450Arg) rs757426469 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1415C>T (p.Pro472Leu) rs1448338752 0.00001
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser) rs762228459 0.00001
NM_005006.7(NDUFS1):c.1960G>C (p.Val654Leu) rs1456097616 0.00001
NM_005006.7(NDUFS1):c.2098A>G (p.Ile700Val) rs755681983 0.00001
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr) rs765677840 0.00001
NM_005006.7(NDUFS1):c.2140G>A (p.Val714Ile) rs771012852 0.00001
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val) rs763697779 0.00001
NM_005006.7(NDUFS1):c.457T>C (p.Phe153Leu) rs778246658 0.00001
NM_005006.7(NDUFS1):c.675C>G (p.Ile225Met) rs779381916 0.00001
NM_005006.7(NDUFS1):c.689C>T (p.Ala230Val) rs1575984450 0.00001
NM_005006.7(NDUFS1):c.71C>T (p.Thr24Ile) rs764371466 0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225 0.00001
NM_005006.7(NDUFS1):c.944C>T (p.Thr315Ile) rs749532780 0.00001
NM_005006.7(NDUFS1):c.1012G>A (p.Val338Met)
NM_005006.7(NDUFS1):c.1021A>G (p.Ile341Val)
NM_005006.7(NDUFS1):c.1098A>C (p.Leu366Phe)
NM_005006.7(NDUFS1):c.1143G>T (p.Leu381Phe)
NM_005006.7(NDUFS1):c.1145G>A (p.Arg382His)
NM_005006.7(NDUFS1):c.1151A>G (p.Asn384Ser) rs147185691
NM_005006.7(NDUFS1):c.1151A>T (p.Asn384Ile) rs147185691
NM_005006.7(NDUFS1):c.1164TAC[1] (p.Thr390del) rs2105967024
NM_005006.7(NDUFS1):c.1250_1251delinsAG (p.Arg417Lys)
NM_005006.7(NDUFS1):c.1299C>T (p.Gly433=) rs2105961351
NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr)
NM_005006.7(NDUFS1):c.1354C>A (p.Leu452Ile) rs140530293
NM_005006.7(NDUFS1):c.1370C>T (p.Ser457Leu)
NM_005006.7(NDUFS1):c.1380T>G (p.His460Gln)
NM_005006.7(NDUFS1):c.139A>G (p.Thr47Ala)
NM_005006.7(NDUFS1):c.1405G>A (p.Ala469Thr)
NM_005006.7(NDUFS1):c.1423G>T (p.Val475Phe) rs139120428
NM_005006.7(NDUFS1):c.1483A>G (p.Ser495Gly)
NM_005006.7(NDUFS1):c.1505T>G (p.Met502Arg)
NM_005006.7(NDUFS1):c.1522G>A (p.Gly508Ser)
NM_005006.7(NDUFS1):c.154G>A (p.Ala52Thr) rs759823916
NM_005006.7(NDUFS1):c.1589A>G (p.Tyr530Cys)
NM_005006.7(NDUFS1):c.1613G>A (p.Arg538Gln) rs768062085
NM_005006.7(NDUFS1):c.1666A>C (p.Thr556Pro)
NM_005006.7(NDUFS1):c.1670G>A (p.Arg557Gln) rs863224102
NM_005006.7(NDUFS1):c.1730C>A (p.Ala577Asp) rs1691357817
NM_005006.7(NDUFS1):c.1735A>G (p.Ile579Val)
NM_005006.7(NDUFS1):c.1772A>G (p.Glu591Gly) rs954779442
NM_005006.7(NDUFS1):c.177G>C (p.Gln59His) rs1692301816
NM_005006.7(NDUFS1):c.1780G>A (p.Ala594Thr)
NM_005006.7(NDUFS1):c.1787A>G (p.Tyr596Cys)
NM_005006.7(NDUFS1):c.1814A>T (p.Gln605Leu)
NM_005006.7(NDUFS1):c.1898C>T (p.Thr633Ile) rs2105943960
NM_005006.7(NDUFS1):c.1907A>G (p.Tyr636Cys) rs779514372
NM_005006.7(NDUFS1):c.1995C>A (p.Phe665Leu)
NM_005006.7(NDUFS1):c.1A>G (p.Met1Val) rs1359444986
NM_005006.7(NDUFS1):c.2071A>G (p.Ile691Val)
NM_005006.7(NDUFS1):c.2092+7A>C
NM_005006.7(NDUFS1):c.2102G>A (p.Ser701Asn)
NM_005006.7(NDUFS1):c.2117C>T (p.Thr706Ile)
NM_005006.7(NDUFS1):c.2135A>G (p.Lys712Arg)
NM_005006.7(NDUFS1):c.2153C>T (p.Ala718Val)
NM_005006.7(NDUFS1):c.2179T>C (p.Cys727Arg)
NM_005006.7(NDUFS1):c.222C>A (p.Asn74Lys)
NM_005006.7(NDUFS1):c.233G>A (p.Cys78Tyr)
NM_005006.7(NDUFS1):c.254C>T (p.Ala85Val)
NM_005006.7(NDUFS1):c.289A>T (p.Met97Leu) rs2105977000
NM_005006.7(NDUFS1):c.29T>C (p.Leu10Ser)
NM_005006.7(NDUFS1):c.304A>G (p.Ile102Val)
NM_005006.7(NDUFS1):c.408A>G (p.Glu136=)
NM_005006.7(NDUFS1):c.421-6C>G rs863224095
NM_005006.7(NDUFS1):c.473G>A (p.Arg158His)
NM_005006.7(NDUFS1):c.493A>G (p.Ile165Val)
NM_005006.7(NDUFS1):c.533A>G (p.Gln178Arg)
NM_005006.7(NDUFS1):c.560G>C (p.Ser187Thr) rs755478033
NM_005006.7(NDUFS1):c.565A>G (p.Ile189Val)
NM_005006.7(NDUFS1):c.592A>C (p.Thr198Pro) rs1309978370
NM_005006.7(NDUFS1):c.632A>G (p.Glu211Gly)
NM_005006.7(NDUFS1):c.722G>A (p.Arg241Gln)
NM_005006.7(NDUFS1):c.738-16C>T
NM_005006.7(NDUFS1):c.738-20A>T rs200128097
NM_005006.7(NDUFS1):c.827G>A (p.Arg276His)
NM_005006.7(NDUFS1):c.831G>A (p.Met277Ile)
NM_005006.7(NDUFS1):c.841A>G (p.Ile281Val)
NM_005006.7(NDUFS1):c.872+6T>C
NM_005006.7(NDUFS1):c.876T>G (p.Phe292Leu)
NM_005006.7(NDUFS1):c.976G>A (p.Val326Ile)
NM_005006.7(NDUFS1):c.983G>A (p.Gly328Glu)

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