ClinVar Miner

List of variants studied for synucleinopathy by OMIM

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003085.5(SNCB):c.368C>A (p.Pro123His) rs104893937 0.00021
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_001358921.2(COQ2):c.1010G>A (p.Arg337Gln) rs763562410 0.00002
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter) rs751185256 0.00001
NM_003085.5(SNCB):c.208G>A (p.Val70Met) rs104893936 0.00001
NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu) rs762388639 0.00001
NC_000004.12:g.(?_89724098)_(89927969_89934809)dup
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NM_000345.4(SNCA):c.136G>A (p.Glu46Lys) rs104893875
NM_001358921.2(COQ2):c.878T>C (p.Val293Ala) rs397514727
NM_001385079.1(PDE10A):c.1696T>C (p.Phe566Leu) rs875989841
NM_001385079.1(PDE10A):c.1798T>C (p.Phe600Leu) rs875989840
NM_003719.5(PDE8B):c.304G>T (p.Glu102Ter) rs878853158
NM_003719.5(PDE8B):c.79del (p.Arg27fs) rs878853157
NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs) rs2149371451
NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro) rs121917865
NM_018052.5(VAC14):c.1528+1G>A rs879255555
NM_018052.5(VAC14):c.1744G>T (p.Ala582Ser) rs749094914
NM_018052.5(VAC14):c.1748C>T (p.Ser583Leu) rs879255645

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