ClinVar Miner

List of variants reported as benign for Bartter disease type 4A by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.-70C>G rs2500341 0.67045
NM_057176.3(BSND):c.-117T>C rs2500340 0.66208
NM_057176.3(BSND):c.*24A>C rs6682884 0.43300
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617 0.18512
NM_057176.3(BSND):c.177+11G>A rs78904893 0.06761
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125

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