List of variants reported as likely pathogenic for Nonsyndromic Oculocutaneous Albinism by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)	rs63159160	0.00029
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)	rs121918167	0.00023
NM_000372.5(TYR):c.896G>A (p.Arg299His)	rs61754375	0.00006
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)	rs121908011	0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)	rs62645917	0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	rs62645904	0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)	rs281865424	0.00004
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter)	rs752358009	0.00004
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val)	rs748872789	0.00003
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr)	rs772324459	0.00002
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val)	rs570914443	0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)	rs147816326	0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)	rs61754392	0.00001
NM_000275.3(OCA2):c.1045-15T>G	rs779461179
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser)	rs1566767423
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg)	rs1555368749
NM_000275.3(OCA2):c.1182+2dup	rs1567200202
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu)	rs868238523
NM_000275.3(OCA2):c.1951+4A>G	rs759740402
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu)	rs200457227
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs)	rs1566797858
NM_000372.5(TYR):c.1037-18T>G	rs781052288
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)	rs773970123
NM_000372.5(TYR):c.1184+2T>C	rs758119014
NM_000372.5(TYR):c.164G>C (p.Cys55Ser)	rs28940879
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr)	rs1565386425
NM_000372.5(TYR):c.585G>A (p.Trp195Ter)	rs147574809
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del)	rs1565391977
NM_000550.3(TYRP1):c.256G>T (p.Asp86Tyr)	rs1563851602

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