ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His) rs117843717 0.00410
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.2505G>A (p.Pro835=) rs147781276 0.00026
NM_012309.5(SHANK2):c.2424G>A (p.Ala808=) rs143774841 0.00019
NM_012309.5(SHANK2):c.4296G>A (p.Pro1432=) rs559537625 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.3960C>T (p.Asp1320=) rs782053793 0.00006
NM_012309.5(SHANK2):c.2534G>A (p.Arg845Gln) rs782015001 0.00005
NM_012309.5(SHANK2):c.4195G>A (p.Val1399Met) rs544429954 0.00003
NM_012309.5(SHANK2):c.1854-93G>A rs782793049 0.00001
NM_012309.5(SHANK2):c.5317A>G (p.Ile1773Val) rs782439841 0.00001
NM_012309.5(SHANK2):c.5475C>T (p.Leu1825=) rs201242991 0.00001
NM_012309.5(SHANK2):c.2076T>G (p.Asn692Lys) rs1555159199
NM_012309.5(SHANK2):c.2667T>G (p.Pro889=) rs1555154613
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.5449_5452del (p.Leu1817fs) rs2135661818
NM_012309.5(SHANK2):c.5494C>T (p.Arg1832Ter) rs587780459

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