List of variants in gene TJP2 reported as likely pathogenic for cholestasis, progressive familial intrahepatic, 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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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
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)	rs1060499649	0.00001
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)	rs1182781290
NM_004817.4(TJP2):c.120del (p.Arg42fs)
NM_004817.4(TJP2):c.1517_1520+8del
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)	rs1588117076
NM_004817.4(TJP2):c.1780+2T>G
NM_004817.4(TJP2):c.1855A>G (p.Thr619Ala)
NM_004817.4(TJP2):c.2180-5T>G	rs1588135086
NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter)
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)	rs1830379007
NM_004817.4(TJP2):c.2363A>T (p.His788Leu)
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)	rs1588081022
NM_004817.4(TJP2):c.239+1G>A	rs749237210
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)	rs1225374015
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)	rs886041948
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
NM_004817.4(TJP2):c.953-2A>G

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