List of variants studied for oculocutaneous albinism type 2 by Center of Medical Genetics, Central South University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	rs147736385	0.00004
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)	rs767092342	0.00001
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)	rs1595774445
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)	rs1595764680
NM_000275.3(OCA2):c.1460C>A (p.Pro487His)	rs1595760903
NM_000275.3(OCA2):c.1637-2A>G	rs1595717218
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)	rs749249918

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