List of variants in gene UNC80 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter)	rs767633598	0.00002
NM_001371986.1(UNC80):c.4678C>T (p.Arg1560Ter)	rs940692104	0.00001
NM_001371986.1(UNC80):c.1357del (p.Arg453fs)	rs1574574226
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs)	rs1575147319

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