List of variants in gene SCYL1 studied for acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_020680.4(SCYL1):c.877T>G (p.Phe293Val)	rs143168314	0.00272
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile)	rs141670485	0.00076
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg)	rs374754187	0.00016
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)	rs535912271	0.00003
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)	rs942522644	0.00001
NM_020680.4(SCYL1):c.1386+1G>A
NM_020680.4(SCYL1):c.1386+1G>T	rs201581270
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)	rs1554969894
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)	rs1554969925
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)	rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter)	rs1554970375
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala)	rs767319743
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)	rs1320473430

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