ClinVar Miner

List of variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 by OMIM

Included ClinVar conditions (1):

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004056.6(CA8):c.710G>A (p.Arg237Gln)	rs387906598	0.00001
CA8, GLY162ARG
NM_004056.6(CA8):c.232C>T (p.Arg78Ter)
NM_004056.6(CA8):c.251A>G (p.Asn84Ser)
NM_004056.6(CA8):c.298T>C (p.Ser100Pro)	rs267606695

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