ClinVar Miner

List of variants in gene ECHS1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004092.4(ECHS1):c.343A>C (p.Lys115Gln) rs369960115 0.00014
NM_004092.4(ECHS1):c.89-6C>G rs374193842 0.00011
NM_004092.4(ECHS1):c.110T>C (p.Ile37Thr) rs370541567 0.00002
NM_004092.4(ECHS1):c.463G>A (p.Gly155Ser) rs555404939 0.00001
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala) rs770614061 0.00001
NM_004092.4(ECHS1):c.227T>G (p.Phe76Cys) rs1554886473
NM_004092.4(ECHS1):c.293C>G (p.Ala98Gly)
NM_004092.4(ECHS1):c.589C>G (p.Arg197Gly) rs751581356
NM_004092.4(ECHS1):c.643G>A (p.Val215Ile)
NM_004092.4(ECHS1):c.706G>T (p.Val236Leu)
NM_004092.4(ECHS1):c.772T>G (p.Leu258Val)
NM_004092.4(ECHS1):c.865G>A (p.Asp289Asn)

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