ClinVar Miner

List of variants in gene SH3PXD2B reported by Eurofins NTD LLC (GA)

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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.1063-8C>T rs76931006 0.01268
NM_001017995.3(SH3PXD2B):c.1063-9T>C rs189684298 0.01238
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566 0.00143
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) rs143850475 0.00118
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060 0.00118
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721 0.00068
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) rs144659619 0.00048
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) rs142779141 0.00041
NM_001017995.3(SH3PXD2B):c.2569G>T (p.Ala857Ser) rs150789109 0.00027
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu) rs766153965 0.00019
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269 0.00012
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) rs140209484 0.00011
NM_001017995.3(SH3PXD2B):c.1685C>A (p.Pro562Gln) rs147475342 0.00006
NM_001017995.3(SH3PXD2B):c.2456G>A (p.Arg819Gln) rs200899339 0.00004
NM_001017995.3(SH3PXD2B):c.1342C>T (p.Arg448Trp) rs552171716 0.00001
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT rs797044638
NM_001017995.3(SH3PXD2B):c.1102del (p.Gln368fs) rs886043480
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=) rs199727236
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001017995.3(SH3PXD2B):c.2392CTC[1] (p.Leu799del) rs759973468

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