ClinVar Miner

Variants in gene SON 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:

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
1491 164 0 67 35 0 0 99

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
pathogenic 0 12 0 0 0
likely pathogenic 12 0 0 0 0
uncertain significance 0 0 0 34 4
likely benign 0 0 34 0 55
benign 0 0 4 55 0

All variants with conflicting interpretations #

Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.2397T>C (p.Ser799=) rs200724919 0.04184
NM_138927.4(SON):c.636A>G (p.Ala212=) rs79746820 0.01978
NM_138927.4(SON):c.5931C>G (p.Arg1977=) rs150856507 0.00720
NM_138927.4(SON):c.2364T>C (p.Thr788=) rs140574025 0.00304
NM_138927.4(SON):c.2271G>A (p.Ala757=) rs147224438 0.00303
NM_138927.4(SON):c.2244C>G (p.Ser748=) rs138945763 0.00291
NM_138927.4(SON):c.5280T>C (p.Asp1760=) rs77137462 0.00278
NM_138927.4(SON):c.5754T>C (p.Val1918=) rs150122403 0.00275
NM_138927.4(SON):c.2080A>G (p.Thr694Ala) rs141608426 0.00265
NM_138927.4(SON):c.4593T>C (p.Asn1531=) rs73900350 0.00252
NM_138927.4(SON):c.2814T>G (p.Gly938=) rs139823990 0.00229
NM_138927.4(SON):c.3326C>T (p.Ala1109Val) rs144188863 0.00200
NM_138927.4(SON):c.4176G>A (p.Pro1392=) rs150326441 0.00195
NM_138927.4(SON):c.1007C>T (p.Ala336Val) rs149343017 0.00158
NM_138927.4(SON):c.1664C>T (p.Thr555Met) rs13049658 0.00141
NM_138927.4(SON):c.3408C>T (p.Tyr1136=) rs141414634 0.00122
NM_138927.4(SON):c.3447G>A (p.Leu1149=) rs148064125 0.00100
NM_138927.4(SON):c.3726A>G (p.Ser1242=) rs148591619 0.00098
NM_138927.4(SON):c.4399A>G (p.Ile1467Val) rs142751481 0.00095
NM_138927.4(SON):c.3012T>C (p.Ala1004=) rs148794591 0.00088
NM_138927.4(SON):c.4851A>G (p.Ala1617=) rs146914239 0.00088
NM_138927.4(SON):c.497C>T (p.Ala166Val) rs140389869 0.00071
NM_138927.4(SON):c.5964T>C (p.Pro1988=) rs139304331 0.00070
NM_138927.4(SON):c.2661G>A (p.Ala887=) rs117188819 0.00056
NM_138927.4(SON):c.4037C>T (p.Pro1346Leu) rs144767307 0.00036
NM_138927.4(SON):c.1171A>G (p.Met391Val) rs376376408 0.00035
NM_138927.4(SON):c.2659G>A (p.Ala887Thr) rs370344763 0.00023
NM_138927.4(SON):c.3499A>G (p.Met1167Val) rs201837873 0.00023
NM_138927.4(SON):c.1729T>C (p.Ser577Pro) rs201669657 0.00021
NM_138927.4(SON):c.1361C>G (p.Pro454Arg) rs372024048 0.00020
NM_138927.4(SON):c.4228G>A (p.Val1410Ile) rs144716297 0.00019
NM_138927.4(SON):c.788T>C (p.Val263Ala) rs201714133 0.00015
NM_138927.4(SON):c.2581A>G (p.Met861Val) rs142324795 0.00013
NM_138927.4(SON):c.5200G>A (p.Val1734Met) rs146053621 0.00013
NM_138927.4(SON):c.2918C>T (p.Ala973Val) rs146185666 0.00012
NM_138927.4(SON):c.2210C>T (p.Ala737Val) rs143709811 0.00011
NM_138927.4(SON):c.3785C>T (p.Thr1262Ile) rs144772325 0.00011
NM_138927.4(SON):c.4216C>G (p.Pro1406Ala) rs149373538 0.00011
NM_138927.4(SON):c.580A>G (p.Met194Val) rs146870437 0.00011
NM_138927.4(SON):c.6097A>G (p.Ile2033Val) rs376444685 0.00011
NM_138927.4(SON):c.1705G>T (p.Val569Leu) rs778563835 0.00009
NM_138927.4(SON):c.2550C>A (p.Thr850=) rs73900349 0.00009
NM_138927.4(SON):c.4244C>T (p.Pro1415Leu) rs201445156 0.00009
NM_138927.4(SON):c.1106C>T (p.Ala369Val) rs540447388 0.00008
NM_138927.4(SON):c.1414C>T (p.Pro472Ser) rs767649909 0.00007
NM_138927.4(SON):c.3662C>T (p.Ser1221Leu) rs144822029 0.00007
NM_138927.4(SON):c.3914T>C (p.Met1305Thr) rs146846126 0.00007
NM_138927.4(SON):c.5782C>T (p.Arg1928Trp) rs368142947 0.00007
NM_138927.4(SON):c.955G>C (p.Glu319Gln) rs767401593 0.00007
NM_138927.4(SON):c.6657+147C>T rs756936782 0.00006
NM_138927.4(SON):c.5831G>A (p.Gly1944Asp) rs543888641 0.00005
NM_138927.4(SON):c.4878T>C (p.Tyr1626=) rs367641702 0.00004
NM_138927.4(SON):c.3911T>C (p.Val1304Ala) rs752935686 0.00003
NM_138927.4(SON):c.5170A>G (p.Asn1724Asp) rs372853725 0.00003
NM_138927.4(SON):c.1390G>A (p.Glu464Lys) rs763404313 0.00002
NM_138927.4(SON):c.1526C>T (p.Thr509Met) rs749384711 0.00002
NM_138927.4(SON):c.2427C>T (p.Ser809=) rs749767284 0.00002
NM_138927.4(SON):c.5929C>T (p.Arg1977Cys) rs1250702016 0.00002
NM_138927.4(SON):c.2098T>C (p.Ser700Pro) rs2085778381 0.00001
NM_138927.4(SON):c.2119C>T (p.Pro707Ser) rs780957202 0.00001
NM_138927.4(SON):c.2281A>G (p.Met761Val) rs1027499310 0.00001
NM_138927.4(SON):c.2713A>G (p.Met905Val) rs763563040 0.00001
NM_138927.4(SON):c.3247A>G (p.Met1083Val) rs371537268 0.00001
NM_138927.4(SON):c.3541G>A (p.Ala1181Thr) rs1210956110 0.00001
NM_138927.4(SON):c.3644T>A (p.Val1215Glu) rs149427101 0.00001
NM_138927.4(SON):c.3868G>A (p.Ala1290Thr) rs140427337 0.00001
NM_138927.4(SON):c.5017_5019del (p.Asn1673del) rs1347277368 0.00001
NM_138927.4(SON):c.77+6C>G rs201422694 0.00001
NM_138927.4(SON):c.1058C>T (p.Ser353Leu) rs2517350080
NM_138927.4(SON):c.1085C>T (p.Pro362Leu) rs756474261
NM_138927.4(SON):c.1881_1882del (p.Val629fs) rs1569053308
NM_138927.4(SON):c.2271_2300del (p.Ser758_Ala767del)
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.4(SON):c.3153_3179del (p.Pro1052_Ser1060del) rs780229320
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.3587C>T (p.Pro1196Leu) rs1225874870
NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs) rs1569055781
NM_138927.4(SON):c.3746C>A (p.Pro1249Gln) rs767171313
NM_138927.4(SON):c.3746C>G (p.Pro1249Arg) rs767171313
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.4(SON):c.4090_4113del (p.Ala1364_Ser1371del) rs779275354
NM_138927.4(SON):c.4119_4142del (p.1370SSTVTVLE[1]) rs748337491
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del) rs769691894
NM_138927.4(SON):c.4255G>C (p.Val1419Leu) rs745396554
NM_138927.4(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.4(SON):c.4877ATG[1] (p.Asp1627del) rs779500741
NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)
NM_138927.4(SON):c.498G>A (p.Ala166=) rs149705588
NM_138927.4(SON):c.5141A>G (p.Glu1714Gly) rs2085905732
NM_138927.4(SON):c.5309C>T (p.Pro1770Leu)
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5]) rs1462103775
NM_138927.4(SON):c.589T>G (p.Ser197Ala)
NM_138927.4(SON):c.5906GCCGCA[1] (p.Ser1971_Arg1972del) rs761115308
NM_138927.4(SON):c.5943_5963del (p.1957SRTPSRR[5]) rs766784590
NM_138927.4(SON):c.5943_5963dup (p.1957SRTPSRR[7]) rs766784590
NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775

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