ClinVar Miner

List of variants in gene SLC38A8 reported as pathogenic for not provided

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_001080442.3(SLC38A8):c.388+5G>A rs760391436 0.00014
NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys) rs372929441 0.00006
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter) rs761388176 0.00003
NM_001080442.3(SLC38A8):c.445C>T (p.Gln149Ter) rs146899328 0.00001
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter) rs149592537 0.00001
NC_000016.9:g.(?_84043389)_(84056514_?)del
NC_000016.9:g.(?_84043389)_(84067094_?)del
NC_000016.9:g.(?_84046586)_(84056514_?)del
NC_000016.9:g.(?_84046586)_(84070525_?)del
NC_000016.9:g.(?_84050104)_(84050912_?)del
NC_000016.9:g.(?_84056360)_(84056514_?)del
NC_000016.9:g.(?_84056360)_(84075762_?)del
NC_000016.9:g.(?_84063079)_(84075762_?)del
NC_000016.9:g.(?_84065452)_(84067094_?)del
NC_000016.9:g.(?_84066913)_(84075762_?)del
NC_000016.9:g.(?_84070287)_(84075762_?)del
NC_000016.9:g.(?_84075554)_(84075762_?)del
NM_001080442.3(SLC38A8):c.1002del (p.Ser336fs) rs587777255
NM_001080442.3(SLC38A8):c.11del (p.Gln4fs)
NM_001080442.3(SLC38A8):c.141G>A (p.Trp47Ter)
NM_001080442.3(SLC38A8):c.160G>T (p.Gly54Ter)
NM_001080442.3(SLC38A8):c.263del (p.Tyr88fs)
NM_001080442.3(SLC38A8):c.272_273dup (p.Val92fs)
NM_001080442.3(SLC38A8):c.323dup (p.Leu109fs)
NM_001080442.3(SLC38A8):c.359dup (p.Arg121fs)
NM_001080442.3(SLC38A8):c.376del (p.Gln126fs)
NM_001080442.3(SLC38A8):c.385A>T (p.Lys129Ter)
NM_001080442.3(SLC38A8):c.403dup (p.Leu135fs)
NM_001080442.3(SLC38A8):c.421_424dup (p.Pro142fs)
NM_001080442.3(SLC38A8):c.427C>T (p.Gln143Ter)
NM_001080442.3(SLC38A8):c.434G>A (p.Trp145Ter)
NM_001080442.3(SLC38A8):c.495dup (p.Ala166fs)
NM_001080442.3(SLC38A8):c.558C>G (p.Tyr186Ter)
NM_001080442.3(SLC38A8):c.562del (p.Ala188fs)
NM_001080442.3(SLC38A8):c.585C>G (p.Tyr195Ter)
NM_001080442.3(SLC38A8):c.58del (p.Ala20fs)
NM_001080442.3(SLC38A8):c.688C>T (p.Gln230Ter)
NM_001080442.3(SLC38A8):c.697G>T (p.Glu233Ter)
NM_001080442.3(SLC38A8):c.724del (p.Met242fs)
NM_001080442.3(SLC38A8):c.797C>G (p.Ser266Ter)
NM_001080442.3(SLC38A8):c.837del (p.Val280fs) rs756501758
NM_001080442.3(SLC38A8):c.898del (p.Val300fs)
NM_001080442.3(SLC38A8):c.930C>A (p.Tyr310Ter)
NM_001080442.3(SLC38A8):c.951dup (p.Arg318fs)
NM_001080442.3(SLC38A8):c.95T>G (p.Ile32Ser) rs587777253
NM_001080442.3(SLC38A8):c.964C>T (p.Gln322Ter)
NM_001080442.3(SLC38A8):c.994G>T (p.Gly332Ter)
NM_001080442.3(SLC38A8):c.995dup (p.Trp333fs)

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