ClinVar Miner

List of variants in gene BLOC1S6 studied for Hermansky-Pudlak syndrome

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP
NM_012388.3(BLOC1S6):c.274_275TG[1]	rs766946085
NM_012388.3(BLOC1S6):c.2818_2821ACAA[4]	rs376870196
NM_012388.3(BLOC1S6):c.2818_2821ACAA[6]	rs376870196
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter)	rs201348482

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