ClinVar Miner

Variants in gene combination GLA, RPL36A-HNRNPH2 with conflicting interpretations reported as "likely pathogenic and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.640-1G>A rs398123216
NM_000169.2(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.2(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.153G>A (p.Met51Ile)
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.824_825del (p.Leu275fs)
NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del rs876661347

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