List of variants reported as likely pathogenic for disorder of melanin metabolism by MGZ Medical Genetics Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	rs376823382	0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000372.5(TYR):c.1467dup (p.Ala490fs)	rs61754399	0.00014
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00005
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)	rs749979474	0.00004
NM_000275.3(OCA2):c.157del (p.Arg53fs)	rs758894409	0.00003
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)	rs1013801316	0.00001
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	rs767489236
NM_000372.5(TYR):c.996G>A (p.Met332Ile)	rs2135253415

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