List of variants in gene SLC1A4 reported as pathogenic 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys)	rs201278558	0.00012
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	rs761533681	0.00001
NM_003038.5(SLC1A4):c.1035-381_1230-73del	rs1553375174
NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg)	rs1674240361
NM_003038.5(SLC1A4):c.1358G>A (p.Trp453Ter)	rs1674284224
NM_003038.5(SLC1A4):c.1364+1G>A	rs1558529034
NM_003038.5(SLC1A4):c.2T>C (p.Met1Thr)
NM_003038.5(SLC1A4):c.542C>T (p.Ser181Phe)	rs772094635
NM_003038.5(SLC1A4):c.944_945del (p.Leu315fs)	rs1057517664
NM_003038.5(SLC1A4):c.971del (p.Asn324fs)	rs2103675757

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