ClinVar Miner

Variants with conflicting interpretations studied for SYNE1-related condition

Minimum review status of the submission for SYNE1-related condition: Collection method of the submission for SYNE1-related condition:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
57 41 0 52 61 0 0 97

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
SYNE1-related condition uncertain significance likely benign benign
uncertain significance 0 4 1
likely benign 55 0 29
benign 1 23 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not provided 0 46 0 35 57 0 0 82
not specified 0 44 0 30 10 0 0 39

All variants with conflicting interpretations #

Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02717
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp) rs34028822 0.00278
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=) rs138264334 0.00191
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796 0.00163
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) rs146366996 0.00147
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=) rs139590550 0.00140
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp) rs201146062 0.00135
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167 0.00128
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile) rs141858284 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836 0.00101
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=) rs139078338 0.00082
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112 0.00058
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00052
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile) rs141141950 0.00046
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln) rs138277154 0.00029
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met) rs143034104 0.00019
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745 0.00019
NM_182961.4(SYNE1):c.24642+3A>G rs117346210 0.00019
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=) rs2296253 0.00018
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00012
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=) rs759825628 0.00009
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=) rs749509412 0.00009
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=) rs375111758 0.00007
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242 0.00007
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=) rs373438870 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741 0.00005
NM_182961.4(SYNE1):c.10257T>C (p.His3419=) rs147631683 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln) rs201144728 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=) rs760332489 0.00003
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg) rs375476506 0.00002
NM_182961.4(SYNE1):c.23145+6T>G rs794727081 0.00001
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005 0.00001
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) rs148028681
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.24723C>T (p.His8241=) rs141586001
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=) rs749172868
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087

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