ClinVar Miner

Variants in gene SZT2 with conflicting interpretations

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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
2648 366 0 49 40 0 3 91

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 10 1 0 0
likely pathogenic 10 0 2 0 0
uncertain significance 1 2 0 38 3
likely benign 0 0 38 0 39
benign 0 0 3 39 0

All variants with conflicting interpretations #

Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_001365999.1(SZT2):c.5025-17A>G rs149950330 0.00719
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00717
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_001365999.1(SZT2):c.1262-14C>T rs150704592 0.00461
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) rs116536134 0.00441
NM_001365999.1(SZT2):c.5075C>T (p.Thr1692Ile) rs149831634 0.00427
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_001365999.1(SZT2):c.8499+8A>C rs182225944 0.00297
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) rs12089231 0.00279
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00267
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe) rs149812437 0.00200
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_001365999.1(SZT2):c.7344+9A>G rs184417929 0.00181
NM_001365999.1(SZT2):c.7831C>T (p.Leu2611=) rs140744209 0.00174
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) rs142822908 0.00173
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677 0.00134
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) rs143935839 0.00119
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395 0.00113
NM_001365999.1(SZT2):c.7975-10C>T rs181831231 0.00100
NM_001365999.1(SZT2):c.3570C>T (p.Val1190=) rs147644619 0.00098
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154 0.00098
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887 0.00096
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) rs139027171 0.00093
NM_001365999.1(SZT2):c.7512-3C>T rs117106532 0.00086
NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) rs187106999 0.00086
NM_001365999.1(SZT2):c.8916+8G>A rs147419780 0.00075
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) rs147309177 0.00073
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125 0.00068
NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val) rs368272173 0.00061
NM_001365999.1(SZT2):c.3469C>T (p.Pro1157Ser) rs150966402 0.00054
NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) rs754779853 0.00045
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu) rs140427193 0.00039
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) rs138028425 0.00034
NM_001365999.1(SZT2):c.2025G>A (p.Pro675=) rs561698107 0.00032
NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=) rs373047934 0.00031
NM_001365999.1(SZT2):c.4647C>T (p.Gly1549=) rs149192929 0.00019
NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile) rs139147641 0.00015
NM_001365999.1(SZT2):c.9286+5G>A rs367775055 0.00015
NM_001365999.1(SZT2):c.3638G>A (p.Arg1213His) rs187427261 0.00014
NM_001365999.1(SZT2):c.4480+4T>C rs377184977 0.00014
NM_001365999.1(SZT2):c.6961C>T (p.Pro2321Ser) rs776699964 0.00014
NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=) rs372935996 0.00013
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=) rs187188981 0.00011
NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser) rs370230435 0.00009
NM_001365999.1(SZT2):c.4188C>T (p.Ser1396=) rs138401303 0.00008
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys) rs143185010 0.00008
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274 0.00007
NM_001365999.1(SZT2):c.9287-8T>C rs183871754 0.00007
NM_001365999.1(SZT2):c.9938C>T (p.Ala3313Val) rs201695619 0.00006
NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu) rs753130543 0.00005
NM_001365999.1(SZT2):c.4503G>A (p.Val1501=) rs367690658 0.00005
NM_001365999.1(SZT2):c.10156-13G>A rs554300793 0.00004
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180 0.00004
NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=) rs149672814 0.00004
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001365999.1(SZT2):c.1584C>T (p.Ser528=) rs373399099 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) rs746338306 0.00003
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_001365999.1(SZT2):c.7708G>A (p.Gly2570Arg) rs563782968 0.00002
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) rs574115531 0.00001
NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter) rs767342365 0.00001
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.3641G>A (p.Arg1214Gln) rs866494435 0.00001
NM_001365999.1(SZT2):c.5072A>C (p.Glu1691Ala) rs772997069 0.00001
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=) rs797046032 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.780C>T (p.Ile260=) rs375794037 0.00001
NM_001365999.1(SZT2):c.8151+11C>T rs78750047 0.00001
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His) rs374490896 0.00001
NM_001365999.1(SZT2):c.10156-3_10156-2del rs761016357
NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del) rs587777099
NM_001365999.1(SZT2):c.5089-4_5089-3del rs762645558
NM_001365999.1(SZT2):c.5603-11A>G rs199939853
NM_001365999.1(SZT2):c.5687C>T (p.Pro1896Leu)
NM_001365999.1(SZT2):c.5905-13C>G rs200996082
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001365999.1(SZT2):c.675G>A (p.Lys225=) rs564963914
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=) rs375793150
NM_001365999.1(SZT2):c.7255C>T (p.Arg2419Ter)
NM_001365999.1(SZT2):c.7812T>A (p.Ala2604=) rs551577660
NM_001365999.1(SZT2):c.7874-16C>G rs72883828
NM_001365999.1(SZT2):c.8420-13C>G rs368330210
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=) rs534948696

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