ClinVar Miner

List of variants studied for Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile) rs141670485 0.00076
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala) rs767319743
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter) rs1320473430

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