List of variants studied for Hermansky-Pudlak syndrome 7

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_032122.5(DTNBP1):c.512-16T>C	rs112527545	0.00016
NM_032122.5(DTNBP1):c.355+10A>G	rs368923800	0.00006
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)	rs104893945	0.00001
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)	rs367543105	0.00001
NM_032122.5(DTNBP1):c.488+18G>A	rs746234584	0.00001
NM_032122.5(DTNBP1):c.654T>G (p.Ile218Met)	rs367543104	0.00001
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)	rs752074481
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs)	rs752074481
NM_032122.5(DTNBP1):c.111-2A>G
NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter)	rs727502866
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter)	rs2127784434

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