List of variants in gene ECHS1 reported as likely pathogenic for obsolete Leigh syndrome with leukodystrophy

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	rs150321966	0.00012
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	rs375032130	0.00009
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	rs761989177	0.00006
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	rs557128093	0.00004
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu)	rs371582393	0.00003
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)	rs770931871	0.00002
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)	rs758723288	0.00001
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	rs201865375	0.00001
NM_004092.4(ECHS1):c.414+1G>A	rs754815893	0.00001
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys)	rs754609693	0.00001
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr)	rs1318391499	0.00001
NM_004092.4(ECHS1):c.740C>T (p.Ala247Val)	rs762885546	0.00001
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala)	rs770614061	0.00001
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile)	rs775650144	0.00001
NM_004092.4(ECHS1):c.197T>C (p.Ile66Thr)
NM_004092.4(ECHS1):c.457T>A (p.Tyr153Asn)	rs2133441975
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg)	rs1589880497
NM_004092.4(ECHS1):c.847A>G (p.Arg283Gly)	rs1589878956

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