ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as pathogenic by Ambry Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.1210dup (p.Arg404fs)
NM_000169.3(GLA):c.18del (p.Glu7fs) rs2147487830
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.295C>T (p.Gln99Ter) rs868937910
NM_000169.3(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.402T>A (p.Tyr134Ter)
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.677G>A (p.Trp226Ter) rs398123219
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828

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