ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_012388.3(BLOC1S6):c.*1124G>T rs111954968
NM_012388.3(BLOC1S6):c.*171A>T rs60561729
NM_012388.3(BLOC1S6):c.*2209T>C rs7183382
NM_012388.3(BLOC1S6):c.*2404C>T rs13376
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6] rs376870196
NM_012388.3(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639

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