ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NM_000169.2(GLA):c.1021G>A (p.Glu341Lys) rs869312214
NM_000169.2(GLA):c.1021G>T (p.Glu341Ter) rs869312214
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) rs104894844
NM_000169.2(GLA):c.1225C>G (p.Pro409Ala) rs878853698
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) rs112341092
NM_000169.2(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.2(GLA):c.307G>T (p.Glu103Ter) rs1569304851
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.404C>T (p.Ala135Val) rs1569304221
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.2(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.2(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.2(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.2(GLA):c.790G>T (p.Asp264Tyr) rs190347120
NM_000169.2(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.2(GLA):c.805G>A (p.Val269Met) rs869312427
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.2(GLA):c.85dup (p.Ala29fs) rs1569306181
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.994dup (p.Arg332fs) rs1569302887
NM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2] rs398123198

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