List of variants in gene SLC1A1 reported as benign 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_004170.6(SLC1A1):c.1110T>C (p.Thr370=)	rs301430	0.38224
NM_004170.6(SLC1A1):c.414G>A (p.Thr138=)	rs2228622	0.34921
NM_004170.6(SLC1A1):c.*1250G>C	rs3087879	0.28531
NM_004170.6(SLC1A1):c.232+14A>T	rs45518336	0.22319
NM_004170.6(SLC1A1):c.*1588A>G	rs3056	0.17860
NM_004170.6(SLC1A1):c.1193+11G>A	rs1471786	0.14771
NM_004170.6(SLC1A1):c.875+8A>C	rs12682807	0.08497
NM_004170.6(SLC1A1):c.441-11G>A	rs73383440	0.06048
NM_004170.6(SLC1A1):c.*1361T>C	rs1051825	0.03183
NM_004170.6(SLC1A1):c.*1603A>G	rs1051835	0.02887
NM_004170.6(SLC1A1):c.149T>A (p.Phe50Tyr)	rs2228621	0.01849
NM_004170.6(SLC1A1):c.81G>C (p.Ala27=)	rs2229885	0.01755
NM_004170.6(SLC1A1):c.*366T>C	rs77785435	0.00997
NM_004170.6(SLC1A1):c.261C>T (p.Ser87=)	rs79429045	0.00660
NM_004170.6(SLC1A1):c.165T>C (p.Pro55=)	rs142903137	0.00639
NM_004170.6(SLC1A1):c.750C>T (p.Ile250=)	rs116222972	0.00373
NM_004170.6(SLC1A1):c.195C>G (p.Leu65=)	rs114623304	0.00371
NM_004170.6(SLC1A1):c.582+6A>G	rs76311603	0.00222
NM_004170.6(SLC1A1):c.*657AT[9]	rs3038452

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