List of variants in gene SLC25A13 reported as uncertain significance for Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln)	rs548194276	0.00010
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala)	rs776461118	0.00002
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)	rs548769905	0.00001

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