ClinVar Miner

List of variants reported as likely pathogenic for synucleinopathy

Included ClinVar conditions (15):
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Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_003085.5(SNCB):c.368C>A (p.Pro123His) rs104893937 0.00021
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001385079.1(PDE10A):c.1342C>T (p.Arg448Ter) rs1583275773
NM_003719.5(PDE8B):c.1276C>T (p.Arg426Ter)
NM_007126.5(VCP):c.648A>G (p.Ile216Met) rs1828783140
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) rs879253957
NM_018052.5(VAC14):c.104+2T>G
NM_018052.5(VAC14):c.921C>A (p.Cys307Ter)

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