ClinVar Miner

List of variants in gene NDUFS1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 18
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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.421-7A>G rs192949406 0.00292
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185 0.00047
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.1029T>G (p.Gly343=) rs72944827 0.00021
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_005006.7(NDUFS1):c.2028C>T (p.Asn676=) rs768984620 0.00002
NM_005006.7(NDUFS1):c.65G>A (p.Arg22Gln) rs767457281 0.00002
NM_005006.7(NDUFS1):c.1255C>T (p.Arg419Ter)
NM_005006.7(NDUFS1):c.1354C>A (p.Leu452Ile) rs140530293
NM_005006.7(NDUFS1):c.1416A>G (p.Pro472=)
NM_005006.7(NDUFS1):c.1470T>C (p.Leu490=)
NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs) rs1553503175
NM_005006.7(NDUFS1):c.1670G>A (p.Arg557Gln) rs863224102
NM_005006.7(NDUFS1):c.1830G>A (p.Val610=)
NM_005006.7(NDUFS1):c.228G>T (p.Arg76Ser)
NM_005006.7(NDUFS1):c.699_700del (p.Lys234fs) rs1553506655

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