List of variants in gene TJP2 reported as pathogenic by OMIM

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.143T>C (p.Val48Ala)	rs121918299	0.00053
NM_004817.4(TJP2):c.1361del (p.Ala454fs)	rs587777520
NM_004817.4(TJP2):c.1992-2A>G	rs587777521
NM_004817.4(TJP2):c.2438dup (p.Asn814fs)	rs776869985
NM_004817.4(TJP2):c.2668-1G>T	rs864321695
NM_004817.4(TJP2):c.766_769del (p.Ala256fs)	rs587777518
NM_004817.4(TJP2):c.817del (p.Ala273fs)	rs864321697
NM_004817.4(TJP2):c.885del (p.Ser296fs)	rs587777519

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