List of variants in gene USP53 reported as likely pathogenic for cholestasis

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001371395.1(USP53):c.205C>T (p.Gln69Ter)	rs1748101805	0.00001
NM_001371395.1(USP53):c.331C>T (p.Arg111Ter)	rs767460503	0.00001
NM_001371395.1(USP53):c.1295_1299del (p.Leu432fs)
NM_001371395.1(USP53):c.145-10_168del
NM_001371395.1(USP53):c.153G>A (p.Trp51Ter)
NM_001371395.1(USP53):c.158T>A (p.Leu53Ter)	rs2149341072
NM_001371395.1(USP53):c.1744C>T (p.Arg582Ter)
NM_001371395.1(USP53):c.237+1G>A
NM_001371395.1(USP53):c.395A>G (p.His132Arg)	rs1578490102
NM_001371395.1(USP53):c.570-1G>A
NM_001371395.1(USP53):c.78_79dup (p.Ala27fs)
NM_001371395.1(USP53):c.829del (p.Tyr277fs)
NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	rs1317656688
NM_001371395.1(USP53):c.972+3_972+6del
NM_001371395.1(USP53):c.973-1G>A

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