ClinVar Miner

List of variants in gene BSND reported as pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
NM_057176.3(BSND):c.10G>T (p.Glu4Ter) rs121908145
NM_057176.3(BSND):c.262G>T (p.Glu88Ter) rs771232166

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