List of variants in gene LOC129993885, NDUFS4 studied for Mitochondrial complex I deficiency, nuclear type 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002495.4(NDUFS4):c.12G>C (p.Val4=)	rs2279516	0.65985
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)	rs185711494	0.00048
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)	rs149323691	0.00015
NM_002495.4(NDUFS4):c.-22C>A	rs144843461	0.00004
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe)	rs201430870	0.00003
NM_002495.4(NDUFS4):c.-6A>T	rs73754255
NM_002495.4(NDUFS4):c.20C>G (p.Ser7Ter)
NM_002495.4(NDUFS4):c.26del (p.Val9fs)
NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile)
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter)	rs104893899
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)	rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)	rs1329465366

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