List of variants studied for citrin deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_014251.3(SLC25A13):c.-115G>T	rs543933601	0.00089
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)	rs148962110	0.00075
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln)	rs548194276	0.00010
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	rs80338729	0.00006
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)	rs780525233	0.00003
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala)	rs776461118	0.00002
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)	rs548769905	0.00001
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)	rs80338716	0.00001
NM_014251.3(SLC25A13):c.1453-2A>T	rs2116426311
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)	rs973986984
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	rs80338720

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