ClinVar Miner

List of variants in gene SHANK2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.2900A>G (p.Tyr967Cys) rs62622853 0.01738
NM_012309.5(SHANK2):c.4461C>T (p.Ala1487=) rs143595073 0.01308
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His) rs117843717 0.00410
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr) rs150857128 0.00372
NM_012309.5(SHANK2):c.3105C>T (p.Ile1035=) rs115697891 0.00314
NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile) rs140134890 0.00285
NM_012309.5(SHANK2):c.4287T>C (p.Ala1429=) rs116984460 0.00147
NM_012309.5(SHANK2):c.4926G>A (p.Pro1642=) rs150021463 0.00103
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_012309.5(SHANK2):c.4272C>T (p.Pro1424=) rs147305649 0.00054
NM_012309.5(SHANK2):c.4757C>T (p.Pro1586Leu) rs141276059 0.00045
NM_012309.5(SHANK2):c.2505G>A (p.Pro835=) rs147781276 0.00026
NM_012309.5(SHANK2):c.2424G>A (p.Ala808=) rs143774841 0.00019
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met) rs141040521 0.00015
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile) rs543988574 0.00014
NM_012309.5(SHANK2):c.4296G>A (p.Pro1432=) rs559537625 0.00013
NM_012309.5(SHANK2):c.4518G>A (p.Thr1506=) rs549362182 0.00013
NM_012309.5(SHANK2):c.2268G>A (p.Leu756=) rs372417511 0.00007
NM_012309.5(SHANK2):c.2122G>A (p.Gly708Arg) rs797045959 0.00006
NM_012309.5(SHANK2):c.2802C>T (p.Pro934=) rs200604911 0.00006
NM_012309.5(SHANK2):c.3120C>T (p.Ser1040=) rs782245412 0.00006
NM_012309.5(SHANK2):c.3960C>T (p.Asp1320=) rs782053793 0.00006
NM_012309.5(SHANK2):c.2292G>A (p.Ser764=) rs782696929 0.00005
NM_012309.5(SHANK2):c.2534G>A (p.Arg845Gln) rs782015001 0.00005
NM_012309.5(SHANK2):c.3299C>T (p.Pro1100Leu) rs200213968 0.00003
NM_012309.5(SHANK2):c.4195G>A (p.Val1399Met) rs544429954 0.00003
NM_012309.5(SHANK2):c.4130C>T (p.Ala1377Val) rs782311249 0.00002
NM_012309.5(SHANK2):c.1854-93G>A rs782793049 0.00001
NM_012309.5(SHANK2):c.2466C>T (p.Ala822=) rs1389398992 0.00001
NM_012309.5(SHANK2):c.2714C>T (p.Thr905Ile) rs782457537 0.00001
NM_012309.5(SHANK2):c.5317A>G (p.Ile1773Val) rs782439841 0.00001
NM_012309.5(SHANK2):c.5376C>T (p.Ala1792=) rs529952372 0.00001
NM_012309.5(SHANK2):c.5475C>T (p.Leu1825=) rs201242991 0.00001
NM_012309.5(SHANK2):c.1987C>T (p.Gln663Ter) rs2134263074
NM_012309.5(SHANK2):c.2076T>G (p.Asn692Lys) rs1555159199
NM_012309.5(SHANK2):c.2529G>T (p.Thr843=) rs782139196
NM_012309.5(SHANK2):c.2667T>G (p.Pro889=) rs1555154613
NM_012309.5(SHANK2):c.2792A>C (p.Lys931Thr) rs587780458
NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His) rs781863842
NM_012309.5(SHANK2):c.3888G>A (p.Lys1296=) rs782037330
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup) rs756656381
NM_012309.5(SHANK2):c.4183C>T (p.Pro1395Ser) rs562626379
NM_012309.5(SHANK2):c.5449_5452del (p.Leu1817fs) rs2135661818
NM_012309.5(SHANK2):c.5494C>T (p.Arg1832Ter) rs587780459

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