ClinVar Miner

List of variants in gene SLC1A1 reported as benign for Dicarboxylic aminoaciduria

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004170.6(SLC1A1):c.1110T>C (p.Thr370=) rs301430 0.38331
NM_004170.6(SLC1A1):c.414G>A (p.Thr138=) rs2228622 0.34921
NM_004170.6(SLC1A1):c.*1250G>C rs3087879 0.28335
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 0.08598
NM_004170.6(SLC1A1):c.441-11G>A rs73383440 0.06048
NM_004170.6(SLC1A1):c.*1361T>C rs1051825 0.02972
NM_004170.6(SLC1A1):c.*1603A>G rs1051835 0.02701
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.165T>C (p.Pro55=) rs142903137 0.00639
NM_004170.6(SLC1A1):c.261C>T (p.Ser87=) rs79429045 0.00612
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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