ClinVar Miner

List of variants in gene BSND reported as benign for Bartter disease type 4A

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Total variants: 12
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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.127G>A (p.Val43Ile) rs34561376 0.04587
NM_057176.3(BSND):c.*94A>G rs80300625 0.01711
NM_057176.3(BSND):c.-25C>T rs188418228 0.00331
NM_057176.3(BSND):c.-156G>C rs183925883 0.00313
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040

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