ClinVar Miner

List of variants reported as pathogenic for cerebellar disorder by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs) rs1577396376
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs) rs1555208870
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673

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