List of variants reported as likely pathogenic for Neonatal intrahepatic cholestasis due to citrin deficiency

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro)	rs200237622	0.00004
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	rs80338729	0.00004
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)	rs139149160	0.00003
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)	rs768922690	0.00001
NM_014251.3(SLC25A13):c.1121del (p.Ser374fs)	rs1584422832
NM_014251.3(SLC25A13):c.699del (p.Arg234fs)	rs1584433525

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