List of variants in gene TJP2 reported as likely pathogenic for Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)	rs138241615	0.00168
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)	rs376663560	0.00033
NM_004817.4(TJP2):c.1056+2T>C	rs1278244243	0.00001

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