List of variants in gene KIAA0753 reported as pathogenic by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)	rs746068882	0.00002
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)	rs762771340	0.00001
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs)	rs1555531363

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