ClinVar Miner

List of variants in gene TYR studied for Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00050
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00047
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00023
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00009
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00007
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00005
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00002
NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs) rs770218017 0.00001
NM_000372.5(TYR):c.1099C>T (p.His367Tyr) rs776054795 0.00001
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00001
NM_000372.5(TYR):c.163T>G (p.Cys55Gly) rs367543067 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.551C>G (p.Ser184Ter) rs367543066 0.00001
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1109T>A (p.Met370Lys) rs61754385
NM_000372.5(TYR):c.1132C>A (p.Gln378Lys)
NM_000372.5(TYR):c.1200G>A (p.Trp400Ter)
NM_000372.5(TYR):c.216del (p.Val74fs) rs1565386406
NM_000372.5(TYR):c.229C>G (p.Arg77Gly) rs61753184
NM_000372.5(TYR):c.425A>T (p.Lys142Met) rs754250982
NM_000372.5(TYR):c.635G>C (p.Arg212Thr)
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527

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