ClinVar Miner

List of variants studied for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter)	rs2151169266
NM_001163809.2(WDR81):c.5411G>T (p.Gly1804Val)	rs1353464242
NM_001163809.2(WDR81):c.5672T>C (p.Ile1891Thr)	rs2543921856

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