ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) rs147026639
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.639+6A>C rs200096940
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856

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