ClinVar Miner

List of variants in gene SYNE1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
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.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter) rs766129413 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter) rs760715690 0.00001
NM_182961.4(SYNE1):c.24814C>T (p.Arg8272Ter) rs761433022 0.00001
NM_182961.4(SYNE1):c.352C>T (p.Arg118Ter) rs1473936270 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_182961.4(SYNE1):c.7161del (p.Lys2388fs) rs1220584620 0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243 0.00001
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter) rs780991031 0.00001
NC_000006.12:g.152365020del rs1554550339
NM_182961.2(SYNE1):c.24979del rs1562984446
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter) rs2096893099
NM_182961.4(SYNE1):c.10443+1G>T rs886042799
NM_182961.4(SYNE1):c.11205del (p.Ile3735fs) rs2154044401
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs) rs1246610728
NM_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter) rs886043963
NM_182961.4(SYNE1):c.12152G>A (p.Trp4051Ter) rs2154018964
NM_182961.4(SYNE1):c.12361_12362delinsG (p.Lys4121fs)
NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs) rs1563123183
NM_182961.4(SYNE1):c.13956_13968del (p.Phe4652fs) rs2153971833
NM_182961.4(SYNE1):c.14028T>A (p.Tyr4676Ter)
NM_182961.4(SYNE1):c.14204del (p.Gln4735fs) rs1764145184
NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter) rs1563118316
NM_182961.4(SYNE1):c.14813T>A (p.Leu4938Ter) rs2153969039
NM_182961.4(SYNE1):c.1562C>G (p.Ser521Ter) rs1593379577
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs) rs1554440887
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.17229T>G (p.Tyr5743Ter) rs377344899
NM_182961.4(SYNE1):c.17312_17313del (p.Ile5771fs)
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter) rs1562643321
NM_182961.4(SYNE1):c.18740_18741del (p.Leu6247fs) rs886042657
NM_182961.4(SYNE1):c.19046_19048delinsGA (p.Ser6349_Ala6350delinsTer) rs2153628887
NM_182961.4(SYNE1):c.1912C>T (p.Gln638Ter) rs1554756035
NM_182961.4(SYNE1):c.19179G>A (p.Trp6393Ter)
NM_182961.4(SYNE1):c.19223T>A (p.Leu6408Ter) rs758337239
NM_182961.4(SYNE1):c.1941dup (p.Arg648fs) rs775516009
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter) rs886043012
NM_182961.4(SYNE1):c.19893+1G>T rs1191629465
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.21052G>T (p.Glu7018Ter) rs1554246434
NM_182961.4(SYNE1):c.21694C>T (p.Gln7232Ter)
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter) rs886042421
NM_182961.4(SYNE1):c.21975_21976delinsAT (p.Asp7325_Gln7326delinsGluTer)
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23020-1G>A rs1554544827
NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs) rs886043645
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.23492del (p.Glu7831fs) rs1554491478
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter) rs775935265
NM_182961.4(SYNE1):c.23869del (p.Cys7957fs)
NM_182961.4(SYNE1):c.23979-2A>G rs1362058277
NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter) rs1057520552
NM_182961.4(SYNE1):c.24369G>A (p.Trp8123Ter) rs2152915773
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_182961.4(SYNE1):c.25326G>A (p.Trp8442Ter) rs759939544
NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter) rs768958602
NM_182961.4(SYNE1):c.3266del (p.Pro1089fs) rs1442714301
NM_182961.4(SYNE1):c.3769del (p.Glu1257fs) rs2154239396
NM_182961.4(SYNE1):c.3842del (p.Lys1281fs) rs1554709875
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter) rs1554681651
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.5594_5597del (p.Leu1865fs) rs2154182475
NM_182961.4(SYNE1):c.560G>A (p.Trp187Ter)
NM_182961.4(SYNE1):c.6050+1G>A
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.67+1G>T rs1213042460
NM_182961.4(SYNE1):c.6957G>A (p.Trp2319Ter)
NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter) rs886042954
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter) rs1554588688
NM_182961.4(SYNE1):c.9082C>T (p.Arg3028Ter) rs369163343
NM_182961.4(SYNE1):c.9998_9999del (p.Lys3333fs)

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