List of variants in gene TJP2 reported as likely pathogenic

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: 28

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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.2209G>A (p.Gly737Ser)	rs139314808	0.00002
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.1001del (p.Arg334fs)	rs786205659
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly)	rs1057515614
NM_004817.4(TJP2):c.1320-1G>A
NM_004817.4(TJP2):c.1444del (p.Asp482fs)	rs727503479
NM_004817.4(TJP2):c.1517_1520+8del
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)	rs1588117076
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.2355+1G>T	rs1830381101
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.2509C>T (p.Arg837Ter)	rs746830415
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter)	rs1554667607
NM_004817.4(TJP2):c.2881-2A>G
NM_004817.4(TJP2):c.559_565del (p.Arg187fs)
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)	rs886041948
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
NM_004817.4(TJP2):c.952+1_952+732del
NM_004817.4(TJP2):c.953-1G>A

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