ClinVar Miner

List of variants in gene SH3PXD2B reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_001017995.3(SH3PXD2B):c.1983C>T (p.Val661=) rs73317798 0.01510
NM_001017995.3(SH3PXD2B):c.*3815del rs151201604 0.01227
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796 0.01063
NM_001017995.3(SH3PXD2B):c.*3629C>A rs187661302 0.00476
NM_001017995.3(SH3PXD2B):c.*3202C>T rs180938966 0.00429
NM_001017995.3(SH3PXD2B):c.*1478T>C rs144551299 0.00374
NM_001017995.3(SH3PXD2B):c.*642C>T rs192181401 0.00363
NM_001017995.3(SH3PXD2B):c.*306C>A rs142853015 0.00345
NM_001017995.3(SH3PXD2B):c.*235T>C rs147011482 0.00246
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995 0.00215
NM_001017995.3(SH3PXD2B):c.*3989G>A rs114644223 0.00212
NM_001017995.3(SH3PXD2B):c.*789T>A rs150961242 0.00172
NM_001017995.3(SH3PXD2B):c.*957C>T rs79360524 0.00167
NM_001017995.3(SH3PXD2B):c.*843G>A rs143482443 0.00096
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005 0.00074
NM_001017995.3(SH3PXD2B):c.*2538T>C rs114974765 0.00054
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) rs368080609 0.00051
NM_001017995.3(SH3PXD2B):c.*958G>A rs76230855 0.00044
NM_001017995.3(SH3PXD2B):c.*171G>A rs187872276 0.00034
NM_001017995.3(SH3PXD2B):c.*2666G>T rs150647285 0.00034
NM_001017995.3(SH3PXD2B):c.*3006C>T rs539299765 0.00001
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) rs536952235

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