ClinVar Miner

List of variants in gene BLOC1S3 reported by Laboratoire de Génétique Moléculaire, CHU Bordeaux

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs)	rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs)	rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del)	rs754841982

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