List of variants in gene UMOD reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)	rs878855325
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	rs398123697
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)	rs1555487528
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys)	rs1567310155
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)	rs1447458978
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)	rs1555487316

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