ClinVar Miner

List of variants in gene NDUFS1 reported as likely pathogenic for not provided

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_005006.7(NDUFS1):c.1393-2A>C rs370009373 0.00007
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) rs149271416 0.00001
NM_005006.7(NDUFS1):c.1223G>A (p.Arg408His) rs151279101 0.00001
NM_005006.7(NDUFS1):c.1800G>C (p.Glu600Asp) rs863224099 0.00001
NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr) rs767122069 0.00001
NM_005006.7(NDUFS1):c.62-2A>G rs766908402 0.00001
NM_005006.7(NDUFS1):c.1564C>A (p.Gln522Lys)
NM_005006.7(NDUFS1):c.1596_1597insCG (p.Gly533fs) rs1553503175
NM_005006.7(NDUFS1):c.1696A>T (p.Ile566Phe) rs863224097
NM_005006.7(NDUFS1):c.1727G>A (p.Gly576Glu) rs863224103
NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala) rs387907199
NM_005006.7(NDUFS1):c.1950_1951del (p.Ser650_Pro651insTer) rs1575944638
NM_005006.7(NDUFS1):c.228G>T (p.Arg76Ser)
NM_005006.7(NDUFS1):c.338+1G>A rs2105976883
NM_005006.7(NDUFS1):c.589ACA[1] (p.Thr198del) rs863224100
NM_005006.7(NDUFS1):c.61+1_61+3del
NM_005006.7(NDUFS1):c.631_633del (p.Glu211del)
NM_005006.7(NDUFS1):c.661A>T (p.Asn221Tyr) rs1131692032

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