ClinVar Miner

List of variants reported as pathogenic by Centre for Human Genetics, University of Kinshasa

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.2225dup (p.Phe744fs) rs2036555943 0.00001
NM_000275.3(OCA2):c.1365-1G>A rs2140965742
NM_000275.3(OCA2):c.1842+2T>C rs1226502822
NM_000275.3(OCA2):c.646+1G>T rs1046172334
NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs) rs2148289299
NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter) rs1215967523

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