List of variants in gene BLOC1S6 studied for Hermansky-Pudlak syndrome 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)	rs201348482	0.00001
NM_012388.4(BLOC1S6):c.*274TG[1]	rs766946085
NM_012388.4(BLOC1S6):c.*2818ACAA[4]	rs376870196
NM_012388.4(BLOC1S6):c.*2818ACAA[6]	rs376870196
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)	rs2140918991

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