List of variants in gene UMOD reported as pathogenic by OMIM

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_003361.4(UMOD):c.230G>A (p.Cys77Tyr)	rs121917768
NM_003361.4(UMOD):c.307G>T (p.Gly103Cys)	rs28934584
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)	rs121917769
NM_003361.4(UMOD):c.383A>G (p.Asn128Ser)	rs121917770
NM_003361.4(UMOD):c.443G>A (p.Cys148Tyr)	rs28934582
NM_003361.4(UMOD):c.444T>G (p.Cys148Trp)	rs1965741911
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)	rs1555487528
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn)	rs1965729129
NM_003361.4(UMOD):c.649T>C (p.Cys217Arg)	rs28934583
NM_003361.4(UMOD):c.649T>G (p.Cys217Gly)	rs28934583
NM_003361.4(UMOD):c.743G>C (p.Cys248Ser)	rs398122388
NM_003361.4(UMOD):c.764G>A (p.Cys255Tyr)	rs121917771
NM_003361.4(UMOD):c.817G>T (p.Val273Phe)	rs121917774
NM_003361.4(UMOD):c.898T>G (p.Cys300Gly)	rs121917772
NM_003361.4(UMOD):c.943T>C (p.Cys315Arg)	rs121917773
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro)	rs1555487318

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