ClinVar Miner

List of variants reported as benign for Fibrous dysplasia of jaw by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 42
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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.123G>T (p.Leu41=) rs231402 0.36399
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.276C>T (p.Asn92=) rs140326137 0.01605
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_001122681.2(SH3BP2):c.171C>T (p.Cys57=) rs113748730 0.00794
NM_001122681.2(SH3BP2):c.1407-11T>A rs45525837 0.00513
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) rs35313240 0.00443
NM_001122681.2(SH3BP2):c.1332G>A (p.Ser444=) rs34668322 0.00326
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) rs148761331 0.00261
NM_001122681.2(SH3BP2):c.1089T>C (p.Ala363=) rs138192611 0.00089
NM_001122681.2(SH3BP2):c.1241+20G>T rs371677381 0.00070
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_001122681.2(SH3BP2):c.1351-16C>T rs200781117 0.00051
NM_001122681.2(SH3BP2):c.1122C>T (p.Pro374=) rs149122170 0.00037
NM_001122681.2(SH3BP2):c.543C>T (p.Asp181=) rs201371505 0.00029
NM_001122681.2(SH3BP2):c.1366T>C (p.Ser456Pro) rs145949614 0.00026
NM_001122681.2(SH3BP2):c.1241+15C>T rs367551850 0.00014
NM_001122681.2(SH3BP2):c.1320C>T (p.Gly440=) rs769046491 0.00010
NM_001122681.2(SH3BP2):c.518-15C>G rs147331573 0.00010
NM_001122681.2(SH3BP2):c.1407-19T>C rs754090078 0.00009
NM_001122681.2(SH3BP2):c.1624G>A (p.Val542Met) rs201983777 0.00009
NM_001122681.2(SH3BP2):c.1406+14C>A rs375493267 0.00008
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=) rs774809755 0.00006
NM_001122681.2(SH3BP2):c.1488+7G>A rs113327530 0.00004
NM_001122681.2(SH3BP2):c.1489-16C>T rs568904047 0.00004
NM_001122681.2(SH3BP2):c.1489-5T>C rs765618391 0.00004
NM_001122681.2(SH3BP2):c.1549-7C>T rs148481218 0.00004
NM_001122681.2(SH3BP2):c.606G>A (p.Pro202=) rs775926639 0.00003
NM_001122681.2(SH3BP2):c.213C>T (p.Gly71=) rs553536573 0.00001
NM_001122681.2(SH3BP2):c.1351-10C>A rs556659893
NM_001122681.2(SH3BP2):c.136+14del
NM_001122681.2(SH3BP2):c.239+19T>C
NM_001122681.2(SH3BP2):c.357+15G>T rs62620003
NM_001122681.2(SH3BP2):c.518-14del
NM_001122681.2(SH3BP2):c.518-14dup rs1192457972
NM_001122681.2(SH3BP2):c.518-18C>A rs74503655
NM_001122681.2(SH3BP2):c.518-18C>T rs74503655
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.782C>G (p.Pro261Arg) rs146213141

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