ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) rs980400591 0.00001
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser) rs2144748359
NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe) rs2131591617
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser) rs2083259164
NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser) rs1598151147
NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser) rs1450096310

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