ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as likely pathogenic for not provided

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Total variants: 33
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HGVS dbSNP
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.1024C>G (p.Arg342Gly) rs104894843
NM_000169.2(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.2(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.2(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.2(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.2(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) rs1569304218
NM_000169.2(GLA):c.41T>C (p.Leu14Pro)
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser)
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.2(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.2(GLA):c.887T>C (p.Met296Thr)
NM_000169.2(GLA):c.893A>G (p.Asn298Ser) rs1569302985
NM_000169.2(GLA):c.896A>G (p.Asp299Gly) rs1569302982
NM_000169.2(GLA):c.973G>A (p.Gly325Ser) rs398123227

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