ClinVar Miner

Variants in gene NRXN1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
2118 69 0 38 66 1 4 92

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.

pathogenic likely pathogenic uncertain significance likely benign benign association protective other
pathogenic 0 1 0 0 0 0 0 0
likely pathogenic 2 0 4 1 1 0 1 1
uncertain significance 1 4 0 62 19 1 0 0
likely benign 0 0 62 0 36 0 0 0
benign 0 0 19 36 0 0 0 0

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098 0.01437
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999 0.00578
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 0.00472
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982 0.00153
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001330078.2(NRXN1):c.3365-109830G>A rs148517834 0.00074
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592 0.00069
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_001330078.2(NRXN1):c.-995T>C rs200865985 0.00061
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) rs200113281 0.00057
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) rs143446587 0.00053
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447 0.00035
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) rs201735573 0.00014
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_001330078.2(NRXN1):c.324G>A (p.Pro108=) rs199595253 0.00011
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) rs147580960 0.00011
NM_001330078.2(NRXN1):c.772+1040A>T rs201741449 0.00011
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024 0.00010
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr) rs200646155 0.00010
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) rs199714221 0.00008
NM_001330078.2(NRXN1):c.3364+9C>T rs200767650 0.00008
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) rs201212909 0.00008
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) rs201150987 0.00007
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579 0.00006
NM_001330078.2(NRXN1):c.1749C>T (p.Asp583=) rs199934259 0.00006
NM_001330078.2(NRXN1):c.2109C>T (p.Ser703=) rs200456688 0.00006
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=) rs199648817 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330078.2(NRXN1):c.339C>T (p.Ala113=) rs767682431 0.00006
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) rs200672080 0.00006
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816 0.00006
NM_001330078.2(NRXN1):c.798G>A (p.Ala266=) rs201027928 0.00006
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_001330078.2(NRXN1):c.1857A>G (p.Pro619=) rs1324701043 0.00004
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=) rs751894635 0.00004
NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=) rs200179221 0.00004
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101 0.00004
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=) rs201180707 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) rs765360600 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001330078.2(NRXN1):c.777C>T (p.Asp259=) rs587780407 0.00003
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) rs200464704 0.00003
NM_001330078.2(NRXN1):c.1320+10G>A rs113028018 0.00002
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001330078.2(NRXN1):c.1760-13C>G rs886056171 0.00001
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=) rs574531814 0.00001
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=) rs201118246 0.00001
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=) rs75137449 0.00001
NM_001330078.2(NRXN1):c.3071-10C>T rs398123573 0.00001
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=) rs886056170 0.00001
NM_001330078.2(NRXN1):c.3245-4G>T rs1057520338 0.00001
NM_001330078.2(NRXN1):c.3364+3A>G rs762891600 0.00001
NM_001330078.2(NRXN1):c.772+1024C>G rs199645252 0.00001
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.3365-109930GCG[6] rs750165040
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=) rs1573859191
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer) rs1553400438
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=) rs1670775186
NM_001330078.2(NRXN1):c.772+1128_772+1129del rs1558610072
NM_001330078.2(NRXN1):c.772+9del rs755130575
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) rs750165040
Single allele

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