List of variants in gene USP53 reported as pathogenic for biliary tract disorder

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	rs199791850	0.00006
NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	rs751511532	0.00001
NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	rs1452792080	0.00001
NM_001371395.1(USP53):c.1687del (p.Ser563fs)	rs1263067327	0.00001
NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	rs376368459	0.00001
NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	rs762702807	0.00001
NM_001371395.1(USP53):c.510del (p.Ser171fs)	rs2149374086
NM_001371395.1(USP53):c.569+2T>C	rs1578491039
NM_001371395.1(USP53):c.583del (p.Arg195fs)	rs1578499691
NM_001371395.1(USP53):c.725C>T (p.Pro242Leu)	rs1561279060
NM_001371395.1(USP53):c.822+1del
NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	rs1578504946
NM_001371395.1(USP53):c.951del (p.Phe317fs)	rs2149389813

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