ClinVar Miner

List of variants in gene SYNGAP1 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=) rs145707539 0.00216
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00082
NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=) rs149016890 0.00082
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123 0.00071
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=) rs145406441 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_006772.3(SYNGAP1):c.1581C>T (p.Asp527=) rs202178663 0.00034
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=) rs147913000 0.00029
NM_006772.3(SYNGAP1):c.2658G>A (p.Ala886=) rs149467343 0.00024
NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=) rs57365292 0.00020
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=) rs370597423 0.00016
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) rs544817923 0.00012
NM_006772.3(SYNGAP1):c.1812G>A (p.Ser604=) rs149727287 0.00009
NM_006772.3(SYNGAP1):c.2242C>T (p.Leu748=) rs377301201 0.00008
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730 0.00007
NM_006772.3(SYNGAP1):c.1311C>T (p.Pro437=) rs777952612 0.00006
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) rs543705054 0.00006
NM_006772.3(SYNGAP1):c.3045T>C (p.Thr1015=) rs753746117 0.00006
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006772.3(SYNGAP1):c.1137G>A (p.Ser379=) rs1471355033 0.00004
NM_006772.3(SYNGAP1):c.1305G>A (p.Leu435=) rs776326092 0.00004
NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn) rs775884756 0.00004
NM_006772.3(SYNGAP1):c.2710A>G (p.Met904Val) rs748165064 0.00004
NM_006772.3(SYNGAP1):c.3156G>A (p.Gly1052=) rs764849812 0.00004
NM_006772.3(SYNGAP1):c.3354C>T (p.Ser1118=) rs756351837 0.00004
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112 0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396 0.00004
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val) rs192497085 0.00003
NM_006772.3(SYNGAP1):c.2381C>T (p.Pro794Leu) rs375837477 0.00003
NM_006772.3(SYNGAP1):c.2669G>C (p.Arg890Pro) rs369681579 0.00003
NM_006772.3(SYNGAP1):c.3849G>A (p.Pro1283=) rs1014733325 0.00003
NM_006772.3(SYNGAP1):c.2829C>T (p.Gly943=) rs1185150405 0.00002
NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln) rs557096495 0.00002
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser) rs767071930 0.00002
NM_006772.3(SYNGAP1):c.372G>A (p.Ala124=) rs748895452 0.00002
NM_006772.3(SYNGAP1):c.2460C>T (p.Tyr820=) rs756696815 0.00001
NM_006772.3(SYNGAP1):c.2595C>T (p.Ala865=) rs745742397 0.00001
NM_006772.3(SYNGAP1):c.2844C>T (p.Gly948=) rs753093321 0.00001
NM_006772.3(SYNGAP1):c.297A>G (p.Glu99=) rs1038411463 0.00001
NM_006772.3(SYNGAP1):c.3195G>A (p.Pro1065=) rs752562193 0.00001
NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg) rs748702892 0.00001
NM_006772.3(SYNGAP1):c.3886-5T>C rs1215747659 0.00001
NM_006772.3(SYNGAP1):c.1055C>A (p.Thr352Asn) rs1373454665
NM_006772.3(SYNGAP1):c.114G>A (p.Pro38=) rs370803544
NM_006772.3(SYNGAP1):c.1480A>G (p.Ile494Val)
NM_006772.3(SYNGAP1):c.198C>G (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2478C>T (p.Asp826=) rs754494467
NM_006772.3(SYNGAP1):c.2667A>C (p.Gly889=)
NM_006772.3(SYNGAP1):c.3226T>C (p.Leu1076=) rs756330466
NM_006772.3(SYNGAP1):c.33G>A (p.Gly11=) rs749949430
NM_006772.3(SYNGAP1):c.388-3dup rs771107621
NM_006772.3(SYNGAP1):c.3900C>A (p.Pro1300=) rs1561793756
NM_006772.3(SYNGAP1):c.4008G>C (p.Glu1336Asp)
NM_006772.3(SYNGAP1):c.537G>A (p.Glu179=) rs1209774912
NM_006772.3(SYNGAP1):c.708G>A (p.Ala236=) rs745547755

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