ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 9 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803 0.00004
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
NM_012388.4(BLOC1S6):c.83-1G>A

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