ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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