ClinVar Miner

List of variants in gene BSND reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.459C>T (p.Asp153=) rs138974602 0.00328
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_057176.3(BSND):c.177+15G>C rs193020037 0.00108
NM_057176.3(BSND):c.63C>T (p.Leu21=) rs141611486 0.00079
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_057176.3(BSND):c.597T>C (p.Asp199=) rs200886926 0.00040
NM_057176.3(BSND):c.*14C>T rs187356092 0.00037
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) rs200246335 0.00034
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00014
NM_057176.3(BSND):c.806G>A (p.Arg269Gln) rs199832638 0.00013
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) rs202128855 0.00010
NM_057176.3(BSND):c.225A>G (p.Pro75=) rs755110588 0.00007
NM_057176.3(BSND):c.425G>A (p.Gly142Glu) rs769608234 0.00006
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) rs781101708 0.00006
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_057176.3(BSND):c.177+7G>A rs368723796 0.00004
NM_057176.3(BSND):c.315C>T (p.Ala105=) rs757808729 0.00004
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.375T>C (p.Ser125=) rs751676380 0.00003
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536 0.00003
NM_057176.3(BSND):c.183C>T (p.Thr61=) rs377452238 0.00001
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.197A>G (p.Asp66Gly) rs1570272506
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) rs749600956
NM_057176.3(BSND):c.810C>T (p.Tyr270=) rs1451582678
NM_057176.3(BSND):c.821A>C (p.Lys274Thr) rs547338387
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896
NM_057176.3(BSND):c.951C>A (p.Asp317Glu) rs876657432

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