ClinVar Miner

List of variants in gene SYNE2 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg) rs150677837 0.00065
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_182914.3(SYNE2):c.14844-8C>G rs375500620 0.00051
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941 0.00030
NM_182914.3(SYNE2):c.11164-4C>T rs370961691 0.00029
NM_182914.3(SYNE2):c.12307-5T>C rs374468002 0.00029
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn) rs201134182 0.00020
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr) rs138644399 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597 0.00011
NM_182914.3(SYNE2):c.9745-9A>G rs778028287 0.00010
NM_182914.3(SYNE2):c.10306G>A (p.Gly3436Ser) rs768614412 0.00009
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe) rs748430621 0.00009
NM_182914.3(SYNE2):c.20590C>T (p.Leu6864Phe) rs201554266 0.00009
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala) rs201838350 0.00009
NM_182914.3(SYNE2):c.1218G>A (p.Met406Ile) rs768665395 0.00008
NM_182914.3(SYNE2):c.12437A>G (p.His4146Arg) rs375035375 0.00008
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val) rs368642506 0.00008
NM_182914.3(SYNE2):c.10457A>G (p.Asp3486Gly) rs768214736 0.00007
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977 0.00006
NM_182914.3(SYNE2):c.7664C>T (p.Thr2555Met) rs201297144 0.00006
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys) rs758897129 0.00005
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00004
NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys) rs374948516 0.00004
NM_182914.3(SYNE2):c.2023A>G (p.Ile675Val) rs199854951 0.00004
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val) rs556342048 0.00004
NM_182914.3(SYNE2):c.4423A>G (p.Lys1475Glu) rs761080544 0.00004
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His) rs368363575 0.00003
NM_182914.3(SYNE2):c.16480-10C>G rs768388576 0.00003
NM_182914.3(SYNE2):c.17862G>T (p.Lys5954Asn) rs146016022 0.00003
NM_182914.3(SYNE2):c.18541-7G>A rs368396657 0.00003
NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu) rs557133901 0.00001
NM_182914.3(SYNE2):c.11084T>C (p.Ile3695Thr) rs774045803 0.00001
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn) rs376684112 0.00001
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg) rs758936935 0.00001
NM_182914.3(SYNE2):c.18862G>A (p.Gly6288Ser) rs2098648256 0.00001
NM_182914.3(SYNE2):c.19559C>T (p.Pro6520Leu) rs1372094522 0.00001
NM_182914.3(SYNE2):c.20115C>G (p.Asn6705Lys) rs199800249 0.00001
NM_182914.3(SYNE2):c.7028A>G (p.Glu2343Gly) rs770601583 0.00001
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg) rs375398029
NM_182914.3(SYNE2):c.11170T>A (p.Trp3724Arg) rs2097511363
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_182914.3(SYNE2):c.11854G>A (p.Val3952Met) rs758155150
NM_182914.3(SYNE2):c.12592C>G (p.Pro4198Ala) rs1448524579
NM_182914.3(SYNE2):c.12607G>C (p.Glu4203Gln) rs1595569322
NM_182914.3(SYNE2):c.1265T>A (p.Leu422Gln)
NM_182914.3(SYNE2):c.13549A>G (p.Thr4517Ala) rs980737727
NM_182914.3(SYNE2):c.15361T>C (p.Ser5121Pro)
NM_182914.3(SYNE2):c.19585_19605dup (p.Gly6529_Gly6535dup) rs1596298521
NM_182914.3(SYNE2):c.20351C>G (p.Ser6784Cys) rs1555561946
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu) rs1555564487
NM_182914.3(SYNE2):c.20687C>T (p.Pro6896Leu) rs936362952
NM_182914.3(SYNE2):c.2151+4A>G
NM_182914.3(SYNE2):c.2366A>T (p.Asp789Val) rs1555415944
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His) rs760909392
NM_182914.3(SYNE2):c.3480+9del rs754100176
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
NM_182914.3(SYNE2):c.4964A>C (p.Lys1655Thr) rs1594893225
NM_182914.3(SYNE2):c.7549A>G (p.Ser2517Gly) rs774431675
NM_182914.3(SYNE2):c.7862A>G (p.Gln2621Arg) rs1459579829

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