ClinVar Miner

List of variants in gene SNCA studied for Lewy body dementia; Autosomal dominant Parkinson disease 1

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000345.4(SNCA):c.*501C>T rs17016074 0.04776
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_000345.4(SNCA):c.121+11C>T rs35135226 0.00022
NM_000345.4(SNCA):c.216G>A (p.Thr72=) rs144758871 0.00021
NM_000345.4(SNCA):c.156G>T (p.Val52=) rs148108612 0.00019
NM_000345.4(SNCA):c.349C>A (p.Pro117Thr) rs145138372 0.00016
NM_000345.4(SNCA):c.147G>A (p.Val49=) rs141859659 0.00015
NM_000345.4(SNCA):c.298T>C (p.Leu100=) rs138969470 0.00014
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962 0.00007
NM_000345.4(SNCA):c.391-16A>G rs371014092 0.00006
NM_000345.4(SNCA):c.121+13C>T rs763539470 0.00003
NM_000345.4(SNCA):c.225A>T (p.Thr75=) rs149401968 0.00003
NM_000345.4(SNCA):c.287A>G (p.Lys96Arg) rs548523899 0.00003
NM_000345.4(SNCA):c.*464C>A rs183204610 0.00002
NM_000345.4(SNCA):c.390+11A>C rs546366532 0.00002
NM_000345.4(SNCA):c.246G>A (p.Val82=) rs775179895 0.00001
NM_000345.4(SNCA):c.306+8T>C rs758513669 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
GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3
NC_000004.11:g.(?_90647315)_(90756828_?)del
NC_000004.11:g.(?_90647315)_(90756828_?)dup
NC_000004.11:g.(?_90647315)_(90756838_?)dup
NC_000004.11:g.(?_90647779)_(90756818_?)dup
NM_000345.4(SNCA):c.100A>G (p.Lys34Glu) rs1330229174
NM_000345.4(SNCA):c.105G>A (p.Glu35=)
NM_000345.4(SNCA):c.121+9A>C
NM_000345.4(SNCA):c.122-2A>C rs2110488615
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) rs104893875
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) rs104893877
NM_000345.4(SNCA):c.158C>T (p.Ala53Val) rs542171324
NM_000345.4(SNCA):c.163+6C>A rs2110488377
NM_000345.4(SNCA):c.163+7T>G rs1578405610
NM_000345.4(SNCA):c.164-16T>A
NM_000345.4(SNCA):c.203G>A (p.Gly68Glu)
NM_000345.4(SNCA):c.217G>A (p.Gly73Ser)
NM_000345.4(SNCA):c.243A>G (p.Thr81=) rs568436589
NM_000345.4(SNCA):c.247G>C (p.Glu83Gln) rs2110460484
NM_000345.4(SNCA):c.306+20G>A
NM_000345.4(SNCA):c.306+7C>T rs2110460139
NM_000345.4(SNCA):c.307-13C>T
NM_000345.4(SNCA):c.31G>T (p.Ala11Ser)
NM_000345.4(SNCA):c.342A>C (p.Glu114Asp)
NM_000345.4(SNCA):c.349C>T (p.Pro117Ser)
NM_000345.4(SNCA):c.367G>A (p.Glu123Lys)
NM_000345.4(SNCA):c.375T>C (p.Tyr125=)
NM_000345.4(SNCA):c.381G>A (p.Met127Ile)
NM_000345.4(SNCA):c.390+7G>C
NM_000345.4(SNCA):c.391-7A>G rs2110065158
NM_000345.4(SNCA):c.396G>T (p.Gly132=)
NM_000345.4(SNCA):c.401A>G (p.Gln134Arg)
NM_000345.4(SNCA):c.47T>C (p.Val16Ala) rs1289802008
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly) rs2110525413
NM_000345.4(SNCA):c.99A>G (p.Thr33=)
NM_000345.4(SNCA):c.9A>G (p.Val3=)

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