ClinVar Miner

Variants in gene SH3BP2 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 0.00024
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00002
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) rs758096402 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001

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