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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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