List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 10

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)	rs200459002	0.00091
NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr)	rs201113371	0.00031
NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg)	rs201804540	0.00025
NM_001261826.3(AP3D1):c.2001+6C>T	rs376715473	0.00015
NM_001261826.3(AP3D1):c.2601+6G>T	rs1265838305	0.00003
NM_001261826.3(AP3D1):c.3148G>A (p.Val1050Ile)	rs755674952	0.00002
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)	rs2018180805	0.00001
NM_001261826.3(AP3D1):c.349C>T (p.Arg117Cys)	rs754787367	0.00001
NM_001261826.3(AP3D1):c.3072G>C (p.Lys1024Asn)
NM_001261826.3(AP3D1):c.3134C>T (p.Ser1045Phe)	rs768412125

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