ClinVar Miner

Variants with conflicting interpretations studied for Glycine encephalopathy

Coded as:
Minimum review status of the submission for Glycine encephalopathy: Collection method of the submission for Glycine encephalopathy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
2695 263 0 144 101 0 26 252

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
Glycine encephalopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 112 13 0 0
likely pathogenic 112 0 21 1 1
uncertain significance 13 21 0 93 18
likely benign 0 1 93 0 32
benign 0 1 18 32 0

Condition to condition summary #

Total conditions: 1
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
Glycine encephalopathy 2695 263 0 144 101 0 26 252

All variants with conflicting interpretations #

Total variants: 252
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02144
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00739
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_004483.5(GCSH):c.292+9T>G rs8177909 0.00534
NM_000170.3(GLDC):c.1707+8G>A rs144666843 0.00464
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00400
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326 0.00326
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00320
NM_000481.4(AMT):c.-1G>A rs143841175 0.00309
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123 0.00242
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000170.3(GLDC):c.2748G>A (p.Leu916=) rs139982267 0.00203
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00178
NM_000170.3(GLDC):c.2955G>A (p.Thr985=) rs142004524 0.00131
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00107
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00102
NM_000170.3(GLDC):c.2964G>A (p.Arg988=) rs146045718 0.00095
NM_000481.4(AMT):c.-76G>C rs544461335 0.00092
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954 0.00091
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696 0.00070
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00048
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00027
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00027
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00026
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000170.3(GLDC):c.1581-5C>T rs184463452 0.00021
NM_000170.3(GLDC):c.1530G>A (p.Gly510=) rs145665442 0.00019
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029 0.00017
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr) rs749513146 0.00016
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00015
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855 0.00015
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853 0.00014
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589 0.00014
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00011
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu) rs150998074 0.00010
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_000481.4(AMT):c.696+9A>G rs758602446 0.00009
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg) rs201049516 0.00008
NM_000481.4(AMT):c.159G>A (p.Ala53=) rs201080782 0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521 0.00007
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2028C>T (p.Ile676=) rs372604935 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp) rs141875337 0.00005
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221 0.00005
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155 0.00005
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys) rs139931025 0.00005
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00005
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00005
NM_000481.4(AMT):c.91-9C>T rs761235679 0.00005
NM_000170.3(GLDC):c.1483-15G>C rs371777070 0.00004
NM_000170.3(GLDC):c.150G>A (p.Ser50=) rs768354829 0.00004
NM_000170.3(GLDC):c.1626A>G (p.Glu542=) rs779537709 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146 0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310 0.00004
NM_000481.4(AMT):c.-55C>T rs386833677 0.00004
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.1453T>C (p.Leu485=) rs760562478 0.00003
NM_000170.3(GLDC):c.1644T>G (p.Leu548=) rs750071045 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn) rs770826242 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu) rs367987650 0.00002
NM_000170.3(GLDC):c.437C>T (p.Thr146Met) rs376578742 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn) rs151163582 0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln) rs767652664 0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp) rs761957837 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1402-14T>G rs376719104 0.00001
NM_000170.3(GLDC):c.1416T>C (p.Leu472=) rs2489084107 0.00001
NM_000170.3(GLDC):c.1443G>C (p.Leu481=) rs1334045011 0.00001
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965 0.00001
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln) rs747853668 0.00001
NM_000170.3(GLDC):c.1665+7A>T rs759573888 0.00001
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr) rs1366947118 0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=) rs1034614089 0.00001
NM_000170.3(GLDC):c.1740C>T (p.His580=) rs1587946346 0.00001
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter) rs1251538998 0.00001
NM_000170.3(GLDC):c.1830G>A (p.Gln610=) rs765268971 0.00001
NM_000170.3(GLDC):c.1850+7G>A rs1334727362 0.00001
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000170.3(GLDC):c.2145C>T (p.Asp715=) rs769158507 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.2742A>T (p.Ala914=) rs374022098 0.00001
NM_000170.3(GLDC):c.2859C>G (p.Thr953=) rs1817083513 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter) rs1410625190 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.2925C>T (p.Phe975=) rs1052505781 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu) rs138484426 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000481.4(AMT):c.-58C>T rs753743263 0.00001
NM_000481.4(AMT):c.1098C>T (p.Pro366=) rs1231229906 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.248A>G (p.His83Arg) rs1467607949 0.00001
NM_000481.4(AMT):c.46C>T (p.Gln16Ter) rs2049124862 0.00001
NM_000481.4(AMT):c.471+2T>C rs386833684 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.60G>A (p.Pro20=) rs374750709 0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His) rs562695274 0.00001
NM_000481.4(AMT):c.750C>T (p.Asn250=) rs141324034 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln) rs2129885269
NM_000170.3(GLDC):c.1128G>A (p.Lys376=) rs751362445
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter) rs1818407147
NM_000170.3(GLDC):c.1382G>C (p.Arg461Pro)
NM_000170.3(GLDC):c.1401+10del rs781057882
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1543A>C (p.Arg515=) rs1420923910
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1678A>G (p.Met560Val) rs1818312039
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.1800G>A (p.Lys600=)
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.2148C>T (p.Leu716=) rs367750112
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter) rs779434645
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2316-13_2316-12dup rs3215923
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter) rs1447727878
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter) rs1209943477
NM_000170.3(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys) rs1817497974
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.2523C>A (p.Ala841=) rs762805307
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter) rs770743220
NM_000170.3(GLDC):c.2569+8T>G rs894742250
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2579G>T (p.Gly860Val) rs2129663355
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.3(GLDC):c.2601G>T (p.Thr867=) rs371678175
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter) rs765893483
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro) rs749981093
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2680A>G (p.Thr894Ala)
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2839-7G>C rs771936299
NM_000170.3(GLDC):c.2874C>A (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.322G>T (p.Glu108Ter) rs2130029228
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter) rs2129948971
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys) rs2489124595
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.478C>T (p.Gln160Ter) rs1264725941
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg) rs386833582
NM_000170.3(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro) rs772832052
NM_000170.3(GLDC):c.708_709del (p.Ala237fs) rs1313841674
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.861+11C>G rs757254927
NM_000170.3(GLDC):c.957A>G (p.Arg319=) rs1818693859
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.16del (p.Ser6fs) rs1553638907
NM_000481.4(AMT):c.259-1G>C rs386833681
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.501C>A (p.Gly167=) rs2049067456
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517
NM_000481.4(AMT):c.534_535dup (p.Leu179fs) rs386833685
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067

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