ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Total variants: 18
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HGVS dbSNP
NM_000169.2(GLA):c.1055_1056delCT (p.Ala352Aspfs) rs1555984840
NM_000169.2(GLA):c.1057_1058delAT (p.Met353Aspfs) rs886044829
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.119C>T (p.Pro40Leu)
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.266T>G (p.Leu89Arg)
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.444T>G (p.Ser148Arg)
NM_000169.2(GLA):c.59_72dup (p.Asp25Profs) rs1555987175
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.770C>T (p.Ala257Val)
NM_000169.2(GLA):c.802-2A>T rs797044499
NM_000169.2(GLA):c.848dup (p.Met284Aspfs) rs1555985002
NM_000169.2(GLA):c.874G>C (p.Ala292Pro)
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.2:c.1062_1076del15
NM_000169.2:c.863delC

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