ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.73G>A (p.Asp25Asn) rs781788693 0.00001
NM_000169.3(GLA):c.1042G>C (p.Ala348Pro) rs1603037717
NM_000169.3(GLA):c.465T>G (p.Asp155Glu) rs782197072
NM_000169.3(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000169.3(GLA):c.869T>C (p.Met290Thr) rs1603038411
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828

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