ClinVar Miner

List of variants in gene SH3PXD2B reported by PreventionGenetics, part of Exact Sciences

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.563-11T>C rs2569232 0.73618
NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=) rs17074773 0.29312
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530 0.01650
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995 0.00215
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566 0.00143
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060 0.00118
NM_001017995.3(SH3PXD2B):c.2398G>A (p.Val800Ile) rs148498348 0.00102
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005 0.00074
NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=) rs142552959 0.00062
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001017995.3(SH3PXD2B):c.854C>T (p.Pro285Leu) rs141428218 0.00059
NM_001017995.3(SH3PXD2B):c.1705A>T (p.Ile569Phe) rs567930218 0.00055
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) rs368080609 0.00051
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269 0.00012
NM_001017995.3(SH3PXD2B):c.453C>T (p.Pro151=) rs143060223 0.00011
NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=) rs201324424 0.00006
NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=) rs370525113 0.00004
NM_001017995.3(SH3PXD2B):c.2454G>A (p.Thr818=) rs147491999 0.00004
NM_001017995.3(SH3PXD2B):c.1129G>A (p.Ala377Thr) rs779664507 0.00002
NM_001017995.3(SH3PXD2B):c.1221C>T (p.Tyr407=)
NM_001017995.3(SH3PXD2B):c.157-10C>T
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) rs536952235
NM_001017995.3(SH3PXD2B):c.330del (p.Tyr111fs)
NM_001017995.3(SH3PXD2B):c.76-5C>T
NM_001308175.2(SH3PXD2B):c.*8G>C
NM_001308175.2(SH3PXD2B):c.1257A>G (p.Ala419=)

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