ClinVar Miner

List of variants in gene SYNGAP1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40227
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.07295
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05793
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00082
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=) rs145406441 0.00059
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) rs544817923 0.00012
NM_006772.3(SYNGAP1):c.2664C>T (p.Ala888=) rs759995681 0.00009
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) rs543705054 0.00006
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser) rs141341400 0.00005
NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=) rs138286163 0.00004
NM_006772.3(SYNGAP1):c.3303C>T (p.Pro1101=) rs776355446 0.00002
NM_006772.3(SYNGAP1):c.140G>A (p.Arg47Gln) rs1034171771 0.00001
NM_006772.3(SYNGAP1):c.2910G>A (p.Glu970=) rs1060504899 0.00001
NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=) rs1554304681
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2067C>T (p.Leu689=) rs1554121850
NM_006772.3(SYNGAP1):c.2168C>T (p.Thr723Ile) rs774729898
NM_006772.3(SYNGAP1):c.272A>G (p.Glu91Gly) rs1554119835
NM_006772.3(SYNGAP1):c.3174T>G (p.Gly1058=) rs1485118493
NM_006772.3(SYNGAP1):c.3902C>A (p.Pro1301His) rs199694815

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