ClinVar Miner

List of variants studied for Albinism by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00018
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381 0.00001
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000275.3(OCA2):c.646+1825_807+679del
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560

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