List of variants in gene combination PREPL, SLC3A1 reported as likely benign for inborn disorder of amino acid metabolism

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)	rs142141929	0.00056
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)	rs370262167	0.00011
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)	rs148703534	0.00009
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)	rs150557210	0.00009
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)	rs200592320	0.00003
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=)	rs746978183	0.00002
NM_000341.4(SLC3A1):c.1618-16T>C
NM_000341.4(SLC3A1):c.1618-5A>T
NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)
NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)
NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=)	rs376256364
NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)
NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)

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