ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter) rs967105970 0.00011
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter) rs606231292 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter) rs766129413 0.00001
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter) rs1300885934 0.00001
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter) rs781655232 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410 0.00001
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter) rs780634258 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) rs797046025 0.00001
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter) rs750266004 0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243 0.00001
NC_000006.11:g.(?_152485278)_(152485480_?)del
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter) rs1203553546
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter) rs2096893099
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs) rs606231135
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
NM_182961.4(SYNE1):c.13299del (p.His4433fs) rs1563130387
NM_182961.4(SYNE1):c.1369del (p.Asp457fs) rs1554768245
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter) rs866163858
NM_182961.4(SYNE1):c.14278del (p.His4760fs) rs2153970781
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter) rs1563088209
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter) rs1270730854
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs) rs1291249200
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter) rs761432453
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) rs797046024
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs) rs2153809530
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.17872_17875del (p.Leu5958fs) rs2153783491
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs) rs2153732048
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter) rs2153709458
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs) rs2153619687
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs) rs1385280819
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs) rs2153537904
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
NM_182961.4(SYNE1):c.20970del (p.Asp6991fs) rs1554247806
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter) rs1269308421
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) rs119103245
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter) rs1554573328
NM_182961.4(SYNE1):c.225+1del rs2154353746
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs) rs1554553667
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) rs1586296730
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
NM_182961.4(SYNE1):c.24977-13_24996del
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter) rs2098713648
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter) rs2154254291
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter) rs757719808
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs) rs2098527248
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) rs757744079
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter) rs983431074
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer) rs1554829141
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) rs771955377
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter) rs2154194664
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) rs1466752822
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs) rs2154182611
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs) rs2098158268
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter) rs2098101022
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs) rs2154170060
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter) rs1417491327
NM_182961.4(SYNE1):c.67+1G>A rs1213042460
NM_182961.4(SYNE1):c.6724-1G>A rs2154157186
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter) rs2154151091
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs) rs797046026
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs) rs2154147676
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter) rs2154133792
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) rs946657984
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter) rs2154115529
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
NM_182961.4(SYNE1):c.[20263C>T;8889del]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.