List of variants reported as pathogenic by Working Group: Pediatric metabolic liver diseases, University Hospital Heidelberg

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_021930.6(RINT1):c.1333+1G>A	rs375350359	0.00005
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)	rs942522644	0.00001
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)	rs1554969925
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.256G>T (p.Glu86Ter)	rs1554967761
NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro)	rs1562849964

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