ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (86):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) rs980400591 0.00001
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_004115.4(FGF14):c.194-1G>C
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)

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