List of variants reported as uncertain significance for Oculocutaneous albinism

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24593
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	rs34962745	0.00699
NM_000372.5(TYR):c.1366+4A>G	rs61754398	0.00175
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)	rs34878847	0.00096
NM_000372.5(TYR):c.504C>T (p.Asn168=)	rs148813091	0.00051
NM_000372.5(TYR):c.*230G>A	rs532489606	0.00034
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)	rs145513733	0.00024
NM_000372.5(TYR):c.1446G>C (p.Ala482=)	rs3913543	0.00022
NM_000372.5(TYR):c.1065G>A (p.Ala355=)	rs1800421	0.00021
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)	rs142170797	0.00017
NM_000372.5(TYR):c.573A>G (p.Gly191=)	rs372123800	0.00016
NM_000372.5(TYR):c.1161T>C (p.Leu387=)	rs141967840	0.00011
NM_000372.5(TYR):c.1214G>A (p.Arg405His)	rs772173320	0.00008
NM_000372.5(TYR):c.-37G>A	rs755069000	0.00004
NM_000372.5(TYR):c.833G>A (p.Arg278Gln)	rs753384336	0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)	rs1031268531	0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)	rs151206295	0.00003
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)	rs199717334	0.00003
NM_000372.5(TYR):c.1044T>C (p.Ala348=)	rs771720319	0.00001
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)	rs777090253	0.00001
NM_000372.5(TYR):c.194T>C (p.Leu65Pro)	rs886048745	0.00001
NM_000372.5(TYR):c.67G>A (p.Ala23Thr)	rs1373014646	0.00001
NM_000275.3(OCA2):c.1504-12_1504-9del	rs886051022
NM_000372.5(TYR):c.-41A>G	rs886048744
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr)	rs748618759
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)	rs1944893007
NM_000372.5(TYR):c.191C>T (p.Pro64Leu)	rs370798325
NM_000372.5(TYR):c.464C>T (p.Thr155Ile)	rs920624553
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter)	rs138817690
NM_000372.5(TYR):c.978A>G (p.Gln326=)	rs1311286117
NM_000550.3(TYRP1):c.319_320dup	rs886063414
NM_000550.3(TYRP1):c.*955dup	rs763340664
NM_016180.4(SLC45A2):c.*29C>G	rs886060518
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)	rs753485165

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