ClinVar Miner

List of variants in gene SH3BP2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) rs3213501 0.79911
NM_001122681.2(SH3BP2):c.240-122_240-121insA rs34274570 0.79370
NM_001122681.2(SH3BP2):c.517+32T>C rs2269485 0.78376
NM_001122681.2(SH3BP2):c.1242-170G>A rs2269484 0.77508
NM_001122681.2(SH3BP2):c.-4-52C>A rs2239727 0.54608
NM_001122681.2(SH3BP2):c.429-186T>G rs1794395 0.50736
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.36399
NM_001122681.2(SH3BP2):c.1407-92G>A rs231396 0.33445
NM_001122681.2(SH3BP2):c.1242-72G>C rs231397 0.20995
NM_001122681.2(SH3BP2):c.-4-179G>A rs231401 0.17051
NM_001122681.2(SH3BP2):c.1489-163C>T rs231395 0.16927
NM_001122681.2(SH3BP2):c.417C>G (p.Pro139=) rs16843413 0.12581
NM_001122681.2(SH3BP2):c.586+8G>A rs28516876 0.11718
NM_001122681.2(SH3BP2):c.239+84T>A rs41264713 0.10604
NM_001122681.2(SH3BP2):c.-4-34T>C rs56323343 0.10535
NM_001122681.2(SH3BP2):c.136+195C>T rs11943093 0.10381
NM_001122681.2(SH3BP2):c.587-38C>G rs16843167 0.08850
NM_001122681.2(SH3BP2):c.1350+94T>C rs1269391 0.08331
NM_001122681.2(SH3BP2):c.1488+91A>G rs56106316 0.06902
NM_001122681.2(SH3BP2):c.1241+40C>G rs59360049 0.04974
NM_001122681.2(SH3BP2):c.1242-209A>C rs9998364 0.04531
NM_001122681.2(SH3BP2):c.1241+44G>A rs113845224 0.03511
NM_001122681.2(SH3BP2):c.*42C>T rs115443380 0.03322
NM_001122681.2(SH3BP2):c.1332G>A (p.Ser444=) rs34668322 0.00326
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser) rs201197278 0.00004
NM_001122681.2(SH3BP2):c.625G>A (p.Val209Met) rs1281385097 0.00001
NM_001122681.2(SH3BP2):c.-4-2172C>G rs28507721
NM_001122681.2(SH3BP2):c.1252C>T (p.Pro418Ser) rs757336022
NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg) rs121909146
NM_001122681.2(SH3BP2):c.1258G>A (p.Gly420Arg) rs28938170
NM_001122681.2(SH3BP2):c.1388A>G (p.Glu463Gly)
NM_001122681.2(SH3BP2):c.357+15G>T rs62620003
NM_001122681.2(SH3BP2):c.586+77G>C rs13137906
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399

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