ClinVar Miner

List of variants reported as likely benign for Bartter syndrome by Natera, Inc.

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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_057176.3(BSND):c.527G>A (p.Arg176His) rs143711308 0.00092
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_057176.3(BSND):c.237C>T (p.Gly79=) rs528075528 0.00022
NM_057176.3(BSND):c.9C>T (p.Asp3=) rs141111550 0.00016
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_057176.3(BSND):c.893G>A (p.Gly298Glu) rs180858237 0.00006
NM_057176.3(BSND):c.909C>T (p.Ala303=) rs756452755 0.00005
NM_057176.3(BSND):c.411G>A (p.Gly137=) rs758111009 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_057176.3(BSND):c.126C>T (p.Ser42=) rs138152773 0.00003
NM_057176.3(BSND):c.216C>A (p.Ile72=) rs755897497 0.00003
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) rs750027126 0.00003
NM_057176.3(BSND):c.696G>A (p.Arg232=) rs886046424 0.00003
NM_057176.3(BSND):c.417G>A (p.Pro139=) rs776717215 0.00002
NM_057176.3(BSND):c.546C>T (p.Pro182=) rs375551000 0.00002
NM_057176.3(BSND):c.393G>A (p.Leu131=) rs201387711

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