List of variants in gene combination PREPL, SLC3A1 reported as uncertain significance 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: 34

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HGVS	dbSNP	gnomAD frequency
NM_001171613.2(PREPL):c.*561A>G	rs546219789	0.00152
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)	rs142141929	0.00056
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)	rs143740561	0.00051
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)	rs200436145	0.00039
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.1799G>A (p.Gly600Glu)	rs141944551	0.00009
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)	rs150557210	0.00009
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)	rs146963107	0.00004
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)	rs781253461	0.00004
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)	rs200592320	0.00003
NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn)	rs886056071	0.00001
NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)	rs754053965	0.00001
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=)	rs770801300	0.00001
NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile)	rs199685360	0.00001
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=)	rs763292534	0.00001
NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr)	rs267599386	0.00001
NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly)	rs377448239	0.00001
NM_001171613.2(PREPL):c.*608T>C	rs755700908	0.00001
NM_001171613.2(PREPL):c.*617A>G	rs886056074	0.00001
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)	rs368796166
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=)	rs371537299
NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)	rs904926333
NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly)	rs886056072
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)	rs1672827519
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del)	rs886056073
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala)	rs1672839012
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)
NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)

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