ClinVar Miner

List of variants reported as pathogenic by FirmaLab

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Total variants: 6
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NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) rs72558201
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538

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