ClinVar Miner

List of variants in gene SH3BP2 reported as benign by GeneDx

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Gene type:
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Total variants: 27
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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 0.78992
NM_001122681.2(SH3BP2):c.517+32T>C rs2269485 0.78105
NM_001122681.2(SH3BP2):c.1242-170G>A rs2269484 0.77237
NM_001122681.2(SH3BP2):c.-4-52C>A rs2239727 0.54695
NM_001122681.2(SH3BP2):c.429-186T>G rs1794395 0.51105
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.37216
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.1489-163C>T rs231395 0.16927
NM_001122681.2(SH3BP2):c.-4-179G>A rs231401 0.16399
NM_001122681.2(SH3BP2):c.417C>G (p.Pro139=) rs16843413 0.12378
NM_001122681.2(SH3BP2):c.586+8G>A rs28516876 0.11718
NM_001122681.2(SH3BP2):c.239+84T>A rs41264713 0.10408
NM_001122681.2(SH3BP2):c.136+195C>T rs11943093 0.10381
NM_001122681.2(SH3BP2):c.-4-34T>C rs56323343 0.10344
NM_001122681.2(SH3BP2):c.587-38C>G rs16843167 0.08663
NM_001122681.2(SH3BP2):c.1350+94T>C rs1269391 0.07925
NM_001122681.2(SH3BP2):c.1488+91A>G rs56106316 0.06902
NM_001122681.2(SH3BP2):c.1241+40C>G rs59360049 0.05050
NM_001122681.2(SH3BP2):c.1242-209A>C rs9998364 0.04447
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.-4-2172C>G rs28507721
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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