ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.178C>A (p.Pro60Thr) rs727504689
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.485G>T (p.Trp162Leu) rs727504350
NM_000169.2(GLA):c.639+6A>C rs200096940
NM_000169.2(GLA):c.643A>C (p.Asn215His) rs727504794
NM_000169.2(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.2(GLA):c.724A>T (p.Ile242Phe) rs397515873
NM_000169.2(GLA):c.729G>C (p.Leu243Phe) rs397515874
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.2(GLA):c.797A>C (p.Asp266Ala) rs28935487
NM_000169.2(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.901C>G (p.Arg301Gly) rs398123224

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