ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported by Blueprint Genetics,

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Total variants: 9
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HGVS dbSNP
NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) rs730880442
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.639+919G>A rs199473684
NM_000169.2(GLA):c.640-814T>C
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.823del (p.Leu275fs) rs869025435

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