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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_012388.4(BLOC1S6):c.312+1G>T	rs756480888	0.00001
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)	rs772475341
NM_012388.4(BLOC1S6):c.313-1G>A	rs2542297010
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met)	rs1595560288
NM_012388.4(BLOC1S6):c.32_34delinsA (p.Gly11fs)	rs2542261623
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)	rs2140918991
NM_012388.4(BLOC1S6):c.82+1G>A	rs1194283484
NM_012388.4(BLOC1S6):c.82+1G>T	rs1194283484
NM_012388.4(BLOC1S6):c.82+1_82+8del	rs2542261887
NM_012388.4(BLOC1S6):c.83-1G>A

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