List of variants reported as pathogenic for Bartter disease type 5 by OMIM

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)	rs878854404
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)	rs878854407
NM_177433.3(MAGED2):c.386_387del (p.Val129fs)	rs878854406
NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)	rs875989852
NM_177433.3(MAGED2):c.991-2A>G	rs878854405

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