ClinVar Miner

List of variants studied for cerebellar disorder by Dr. med. U. Finckh, Human Genetics, Eurofins MVZ

Included ClinVar conditions (298):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1617dup (p.Cys540fs) rs2497266653
NM_001447.3(FAT2):c.7376G>A (p.Gly2459Glu) rs1312050028
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer) rs2543924211
NM_014687.4(RUBCN):c.1262-1G>C rs2474251077
NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs) rs2487562970
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys) rs1320406415

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