List of variants in gene combination LOC129993885, NDUFS4 reported as uncertain significance for Leigh syndrome

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)	rs145347909	0.00055
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.73C>T (p.Leu25Phe)	rs776441221	0.00001
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu)	rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=)	rs1329465366

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