List of variants in gene SLC38A3 reported as pathogenic for Developmental and epileptic encephalopathy 102

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006841.6(SLC38A3):c.1049C>A (p.Ser350Ter)	rs1368316485
NM_006841.6(SLC38A3):c.1119del (p.Val373_Leu374insTer)	rs2109158868
NM_006841.6(SLC38A3):c.1123A>C (p.Thr375Pro)	rs2109158872
NM_006841.6(SLC38A3):c.1212G>A (p.Trp404Ter)	rs2109159077
NM_006841.6(SLC38A3):c.187G>T (p.Glu63Ter)	rs1437118005
NM_006841.6(SLC38A3):c.855+1G>T	rs2109157808

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