ClinVar Miner

Variants in gene combination GLA, RPL36A-HNRNPH2 with conflicting interpretations reported as "drug response and "uncertain significance"

Submission 1 (drug response) minimum review status: Submission 1 (drug response) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) rs782197638
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.2(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.2(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.2(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.2(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.2(GLA):c.989A>G (p.Gln330Arg) rs869312161

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