ClinVar Miner

List of variants reported as likely pathogenic for albinism by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000372.5(TYR):c.101A>C (p.Glu34Ala) rs1555083355
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.452T>G (p.Ile151Ser) rs747095957
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728

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