List of variants in gene TJP2 reported as benign for inborn disorder of bile acid synthesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.239+19T>C	rs2498417	0.90366
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)	rs2309428	0.77489
NM_004817.4(TJP2):c.2992-19G>A	rs2282335	0.39706
NM_004817.4(TJP2):c.2715C>T (p.Thr905=)	rs2282336	0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=)	rs2095876	0.22643
NM_004817.4(TJP2):c.2180-34G>A	rs2309421	0.22518
NM_004817.4(TJP2):c.2992-8C>T	rs143965233	0.00327
NM_004817.4(TJP2):c.1672-27del	rs202100183

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