List of variants in gene WDR81 reported as likely pathogenic for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)	rs587776906	0.00007
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)	rs1194329020	0.00001
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)	rs762005729	0.00001
NM_001163809.2(WDR81):c.1213del (p.Arg405fs)
NM_001163809.2(WDR81):c.1285dup (p.Ala429fs)
NM_001163809.2(WDR81):c.1521del (p.Asp508fs)
NM_001163809.2(WDR81):c.4489+1G>A
NM_001163809.2(WDR81):c.5411G>T (p.Gly1804Val)	rs1353464242
NM_001163809.2(WDR81):c.5672T>C (p.Ile1891Thr)	rs2543921856
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)	rs730882206
NM_001163809.2(WDR81):c.850_851del (p.Leu284fs)

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