List of variants in gene BLOC1S6 reported as benign for Hermansky-Pudlak syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr)	rs145762743	0.00306
NM_012388.4(BLOC1S6):c.82+10A>G	rs370370639	0.00235
NM_012388.4(BLOC1S6):c.224+17C>A	rs142188315	0.00126
NM_012388.4(BLOC1S6):c.*2818ACAA[6]	rs376870196
NM_012388.4(BLOC1S6):c.313-11dup
NM_012388.4(BLOC1S6):c.400-8del
NM_012388.4(BLOC1S6):c.400-8dup	rs373061008

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