ClinVar Miner

List of variants reported as likely pathogenic for cerebellar disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859

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