ClinVar Miner

List of variants reported as uncertain significance for obsolete Leigh syndrome with leukodystrophy

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00042
NM_004092.4(ECHS1):c.343A>C (p.Lys115Gln) rs369960115 0.00014
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004092.4(ECHS1):c.814C>T (p.Arg272Trp) rs772585791 0.00002
NM_004092.4(ECHS1):c.213G>A (p.Gln71=) rs765131350 0.00001
NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg) rs1085307550 0.00001
NM_004092.4(ECHS1):c.444G>T (p.Met148Ile) rs752225756 0.00001
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser) rs962504241 0.00001
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter) rs776926045 0.00001
NM_004092.4(ECHS1):c.833C>T (p.Ala278Val) rs923554493 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004092.4(ECHS1):c.23T>C (p.Leu8Pro) rs775833766
NM_004092.4(ECHS1):c.268G>C (p.Gly90Arg) rs1085307550
NM_004092.4(ECHS1):c.272A>T (p.Asp91Val)
NM_004092.4(ECHS1):c.299T>C (p.Ile100Thr)
NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)
NM_004092.4(ECHS1):c.616G>A (p.Ala206Thr)
NM_004092.4(ECHS1):c.62G>C (p.Cys21Ser) rs1436440154
NM_004092.4(ECHS1):c.67G>C (p.Ala23Pro) rs759853219
NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr) rs201621364
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) rs1554885535

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