ClinVar Miner

List of variants studied for Oculocutaneous albinism by Illumina Laboratory Services, Illumina

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_014324.6(AMACR):c.*663G>A rs15612 0.21767
NM_014324.6(AMACR):c.*227T>G rs6863560 0.08265
NM_014324.6(AMACR):c.*963C>T rs6898962 0.04660
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_014324.6(AMACR):c.*1070C>T rs16892064 0.03353
NM_014324.6(AMACR):c.*1961G>A rs113746028 0.02910
NM_014324.6(AMACR):c.*1144A>G rs840380 0.02385
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01561
NM_000372.5(TYR):c.178C>T (p.Leu60=) rs1939260 0.01556
NM_014324.6(AMACR):c.*982C>T rs16892066 0.01163
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234 0.00733
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
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.823G>T (p.Val275Phe) rs104894314 0.00019
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.832C>T (p.Arg278Ter) rs62645904 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.164G>A (p.Cys55Tyr) rs28940879 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.*294AAGT[1] rs71329877
NM_000550.3(TYRP1):c.*319_*320dup rs886063414
NM_000550.3(TYRP1):c.*468ATTA[1] rs71329878
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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