ClinVar Miner

List of variants in gene BLOC1S6 reported as likely pathogenic for Hermansky-Pudlak syndrome 9

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.312+1G>T
NM_012388.4(BLOC1S6):c.313-1G>A
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)
NM_012388.4(BLOC1S6):c.82+1G>A
NM_012388.4(BLOC1S6):c.82+1G>T
NM_012388.4(BLOC1S6):c.82+1_82+8del

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