ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as pathogenic by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 6
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NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828

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