ClinVar Miner

List of variants reported as uncertain significance for Lewy body dementia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000345.4(SNCA):c.349C>A (p.Pro117Thr) rs145138372 0.00016
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962 0.00007
NM_000157.4(GBA1):c.1495G>A (p.Val499Met) rs369068553 0.00006
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_000345.4(SNCA):c.*464C>A rs183204610 0.00002
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) rs78396650 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000345.4(SNCA):c.359C>T (p.Pro120Leu) rs1024288001 0.00001
NM_000345.4(SNCA):c.382C>A (p.Pro128Thr) rs750899874 0.00001
NM_000345.4(SNCA):c.71A>G (p.Gln24Arg) rs1739236610 0.00001
NC_000004.11:g.(?_90647315)_(90756828_?)del
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro) rs2148083300
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA rs1557900564
NM_000157.4(GBA1):c.454+1G>A rs539166948
NM_000157.4(GBA1):c.83T>C (p.Leu28Ser)
NM_000345.4(SNCA):c.100A>G (p.Lys34Glu) rs1330229174
NM_000345.4(SNCA):c.122-2A>C rs2110488615
NM_000345.4(SNCA):c.158C>T (p.Ala53Val) rs542171324
NM_000345.4(SNCA):c.163+6C>A rs2110488377
NM_000345.4(SNCA):c.203G>A (p.Gly68Glu)
NM_000345.4(SNCA):c.217G>A (p.Gly73Ser)
NM_000345.4(SNCA):c.247G>C (p.Glu83Gln) rs2110460484
NM_000345.4(SNCA):c.31G>T (p.Ala11Ser)
NM_000345.4(SNCA):c.342A>C (p.Glu114Asp)
NM_000345.4(SNCA):c.362A>G (p.Asp121Gly)
NM_000345.4(SNCA):c.367G>A (p.Glu123Lys)
NM_000345.4(SNCA):c.391-4T>G
NM_000345.4(SNCA):c.391-7A>G rs2110065158
NM_000345.4(SNCA):c.401A>G (p.Gln134Arg)
NM_000345.4(SNCA):c.403G>C (p.Asp135His)
NM_000345.4(SNCA):c.415G>A (p.Glu139Lys)
NM_000345.4(SNCA):c.47T>C (p.Val16Ala) rs1289802008
NM_003085.5(SNCB):c.100A>G (p.Lys34Glu) rs2113420521
NM_003085.5(SNCB):c.269C>T (p.Pro90Leu)
NM_003085.5(SNCB):c.37G>C (p.Glu13Gln)
NM_003085.5(SNCB):c.55G>A (p.Ala19Thr)

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