List of variants reported as likely pathogenic for Citrin deficiency

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_014251.3(SLC25A13):c.1231-1G>A	rs781452100	0.00004
NM_014251.3(SLC25A13):c.15+1G>A	rs748094224	0.00002
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)	rs548769905	0.00001
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)	rs121908532	0.00001
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)	rs80338727	0.00001
NM_014251.3(SLC25A13):c.70-1G>A	rs962082210	0.00001
NM_014251.3(SLC25A13):c.848+1G>T	rs761370420	0.00001
NC_000007.13:g.(?_95799347)_(95838299_?)dup
NC_000007.13:g.(?_95906498)_(95926273_?)dup
NM_014251.3(SLC25A13):c.1178-1G>C
NM_014251.3(SLC25A13):c.1178-1G>T	rs1794001446
NM_014251.3(SLC25A13):c.1316G>A (p.Gly439Glu)
NM_014251.3(SLC25A13):c.1452+1G>A	rs2116481274
NM_014251.3(SLC25A13):c.15+2T>C
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)	rs80338724
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)	rs548769905
NM_014251.3(SLC25A13):c.1750+1G>C	rs771583670
NM_014251.3(SLC25A13):c.1750+2T>C
NM_014251.3(SLC25A13):c.1841+3_1841+4del
NM_014251.3(SLC25A13):c.213-2A>C
NM_014251.3(SLC25A13):c.213-2A>G
NM_014251.3(SLC25A13):c.328+1G>T	rs1796684525
NM_014251.3(SLC25A13):c.329-1G>A
NM_014251.3(SLC25A13):c.329-2A>G
NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg)	rs1269555090
NM_014251.3(SLC25A13):c.469-2A>G
NM_014251.3(SLC25A13):c.70-1G>T	rs962082210
NM_014251.3(SLC25A13):c.755-1G>C
NM_014251.3(SLC25A13):c.934-2A>T	rs1794574986

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