List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 9 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_012388.4(BLOC1S6):c.312+1G>T	rs756480888	0.00001
NM_012388.4(BLOC1S6):c.313-1G>A	rs2542297010
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

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