ClinVar Miner

Variants in gene A2ML1 with conflicting interpretations

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
1112 316 0 70 83 0 1 141

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 78 18
likely benign 0 78 0 70
benign 0 18 70 0

All variants with conflicting interpretations #

Total variants: 141
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) rs61741216 0.00991
NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile) rs61734941 0.00911
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg) rs75617691 0.00252
NM_144670.6(A2ML1):c.1745A>G (p.Gln582Arg) rs200271507 0.00225
NM_144670.6(A2ML1):c.2029-5A>C rs145965024 0.00216
NM_144670.6(A2ML1):c.621T>C (p.Gly207=) rs145494834 0.00210
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_144670.6(A2ML1):c.9T>A (p.Ala3=) rs151044194 0.00177
NM_144670.6(A2ML1):c.196C>T (p.Leu66=) rs185519272 0.00172
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) rs77431272 0.00138
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) rs200763256 0.00126
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) rs192221816 0.00123
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482 0.00080
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00080
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459 0.00061
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr) rs202179061 0.00056
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_144670.6(A2ML1):c.2029-8C>T rs7298954 0.00048
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) rs185181365 0.00047
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) rs201185025 0.00046
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=) rs200462659 0.00044
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr) rs184575465 0.00042
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=) rs200269317 0.00041
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His) rs200744656 0.00041
NM_144670.6(A2ML1):c.2862C>G (p.Gly954=) rs535988756 0.00039
NM_144670.6(A2ML1):c.357G>C (p.Gly119=) rs200671971 0.00036
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) rs371033800 0.00036
NM_144670.6(A2ML1):c.63-4A>G rs200007710 0.00036
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) rs201562692 0.00029
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) rs146213855 0.00028
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) rs200503836 0.00026
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala) rs374408168 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_144670.6(A2ML1):c.728+13G>A rs373095814 0.00025
NM_144670.6(A2ML1):c.4056C>T (p.His1352=) rs377520682 0.00024
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) rs182743597 0.00023
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) rs142219499 0.00022
NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr) rs77657214 0.00021
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys) rs367937691 0.00021
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys) rs750524549 0.00019
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) rs192888493 0.00019
NM_144670.6(A2ML1):c.1368C>T (p.His456=) rs200983183 0.00018
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu) rs201762847 0.00017
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser) rs753186530 0.00016
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_144670.6(A2ML1):c.277G>T (p.Val93Leu) rs775011475 0.00014
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.2840C>T (p.Thr947Met) rs199873022 0.00013
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val) rs762406949 0.00012
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) rs201752325 0.00012
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr) rs201363860 0.00011
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter) rs182070540 0.00009
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg) rs201979319 0.00009
NM_144670.6(A2ML1):c.855+9A>G rs200524501 0.00009
NM_144670.6(A2ML1):c.3821G>A (p.Arg1274His) rs199517408 0.00008
NM_144670.6(A2ML1):c.1477-13T>C rs778863549 0.00007
NM_144670.6(A2ML1):c.2678G>A (p.Arg893Gln) rs780281065 0.00006
NM_144670.6(A2ML1):c.3234C>T (p.Asn1078=) rs764790159 0.00006
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=) rs747281942 0.00006
NM_144670.6(A2ML1):c.4061+11_4061+12del rs767089812 0.00006
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys) rs199919065 0.00006
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met) rs202211381 0.00006
NM_144670.6(A2ML1):c.973G>A (p.Val325Met) rs749156731 0.00006
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His) rs372629661 0.00005
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met) rs755702632 0.00005
NM_144670.6(A2ML1):c.1476+15C>T rs759159005 0.00004
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile) rs769726608 0.00004
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu) rs758305694 0.00004
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val) rs753161669 0.00004
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met) rs201083574 0.00004
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu) rs190379856 0.00004
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln) rs756640163 0.00004
NM_144670.6(A2ML1):c.1280A>G (p.Asn427Ser) rs537292419 0.00003
NM_144670.6(A2ML1):c.1833+10T>C rs753086817 0.00003
NM_144670.6(A2ML1):c.21A>G (p.Leu7=) rs529431349 0.00003
NM_144670.6(A2ML1):c.2669A>C (p.Gln890Pro) rs768785455 0.00003
NM_144670.6(A2ML1):c.3339+20G>A rs758617412 0.00003
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn) rs368024371 0.00002
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr) rs771684169 0.00002
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=) rs201335448 0.00002
NM_144670.6(A2ML1):c.3503-3T>C rs748270792 0.00002
NM_144670.6(A2ML1):c.3933+4A>G rs779680238 0.00002
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) rs775772721 0.00002
NM_144670.6(A2ML1):c.1248+7A>G rs765019682 0.00001
NM_144670.6(A2ML1):c.1538-13T>A rs765050311 0.00001
NM_144670.6(A2ML1):c.1683+6A>G rs370846070 0.00001
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met) rs745912214 0.00001
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly) rs770357451 0.00001
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) rs188045880 0.00001
NM_144670.6(A2ML1):c.2712+12T>A rs774960083 0.00001
NM_144670.6(A2ML1):c.2809A>G (p.Ile937Val) rs866812216 0.00001
NM_144670.6(A2ML1):c.2900C>T (p.Pro967Leu) rs202194008 0.00001
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe) rs371934378 0.00001
NM_144670.6(A2ML1):c.3264+5G>A rs200006435 0.00001
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_144670.6(A2ML1):c.3933+14C>T rs200874703 0.00001
NM_144670.6(A2ML1):c.3936G>A (p.Thr1312=) rs375784426 0.00001
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg) rs1052149878 0.00001
NM_144670.6(A2ML1):c.4025C>T (p.Thr1342Ile) rs753841404 0.00001
NM_144670.6(A2ML1):c.4221+17C>T rs772852256 0.00001
NM_144670.6(A2ML1):c.483+6C>T rs754169968 0.00001
NM_144670.6(A2ML1):c.61C>G (p.Pro21Ala) rs749520022 0.00001
NM_144670.6(A2ML1):c.970+13C>T rs748203389 0.00001
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter) rs1007463257 0.00001
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu) rs757200771
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp) rs757576013
NM_144670.6(A2ML1):c.1434G>A (p.Pro478=)
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val) rs770246364
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln) rs200673370
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) rs200673370
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs) rs863224951
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs) rs560609581
NM_144670.6(A2ML1):c.2796G>C (p.Glu932Asp)
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.3108-11T>C
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) rs565930773
NM_144670.6(A2ML1):c.3322A>T (p.Met1108Leu)
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val) rs79889829
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
NM_144670.6(A2ML1):c.3398A>G (p.Asn1133Ser)
NM_144670.6(A2ML1):c.4022C>T (p.Pro1341Leu)
NM_144670.6(A2ML1):c.4061+16G>A rs200962359
NM_144670.6(A2ML1):c.462+19A>G
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846
NM_144670.6(A2ML1):c.494G>A (p.Ser165Asn) rs962354900
NM_144670.6(A2ML1):c.63-6del rs1463624612
NM_144670.6(A2ML1):c.681G>A (p.Lys227=) rs748686815
NM_144670.6(A2ML1):c.844C>T (p.Leu282Phe)

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