ClinVar Miner

List of variants in gene BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 studied for Hermansky-Pudlak syndrome 11

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_201280.3(BLOC1S5):c.154del (p.Val52fs)
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)
NM_201280.3(BLOC1S5):c.345del (p.Val116fs)	rs1763106978

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