List of variants in gene SLC25A13 reported as not provided for amino acid metabolism disease

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)	rs80338729	0.00006
NM_014251.3(SLC25A13):c.615+5G>A	rs80338717	0.00003
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)	rs398122839	0.00001
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)	rs80338721	0.00001
NM_014251.3(SLC25A13):c.1177+1G>A	rs80338722	0.00001
NM_014251.3(SLC25A13):c.1311+1G>A	rs80338723	0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)	rs80338725	0.00001
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)	rs80338726	0.00001
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)	rs80338727	0.00001
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)	rs80338716	0.00001
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)	rs80338724
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)	rs80338727
NM_014251.3(SLC25A13):c.615+1G>C	rs80338718
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	rs80338719
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)	rs80338720

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