ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.639+6A>C rs200096940
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
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.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437

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