ClinVar Miner

List of variants reported as likely pathogenic for albinism by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000273.2(GPR143):c.12_36delGCGCCTAGGGACCTTCTGCTGCCCC (p.Leu6Glyfs) rs1057518787
NM_000275.2(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.4(TYR):c.325G>A (p.Gly109Arg) rs61753253
NM_000550.2(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.2(TYRP1):c.670C>T (p.His224Tyr) rs1057518841

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