List of variants in gene UMOD reported as likely pathogenic by Gharavi Laboratory, Columbia University

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)	rs398123697	0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)	rs780462125	0.00001
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)	rs1567311288
NM_003361.4(UMOD):c.205T>A (p.Cys69Ser)	rs1567311279
NM_003361.4(UMOD):c.255C>A (p.Asn85Lys)	rs750535100
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)	rs1567309965
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)	rs1567309582

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