ClinVar Miner

List of variants in gene AMN studied for Imerslund-Grasbeck syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 419
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_030943.4(AMN):c.363G>A (p.Gly121=) rs141455061 0.00632
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_030943.4(AMN):c.324C>T (p.Asp108=) rs7140429 0.00514
NM_030943.4(AMN):c.165G>A (p.Met55Ile) rs61731158 0.00505
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_030943.4(AMN):c.843+12G>A rs140902778 0.00278
NM_030943.4(AMN):c.843+11C>T rs369361298 0.00210
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_030943.4(AMN):c.57G>T (p.Ala19=) rs145328398 0.00118
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_030943.4(AMN):c.275C>T (p.Ser92Leu) rs144707331 0.00079
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_030943.4(AMN):c.928G>A (p.Val310Met) rs201788173 0.00043
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu) rs777560818 0.00016
NM_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_030943.4(AMN):c.345G>A (p.Pro115=) rs749947054 0.00009
NM_030943.4(AMN):c.1258-8C>T rs750073599 0.00008
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_030943.4(AMN):c.805C>T (p.Arg269Trp) rs200712130 0.00006
NM_030943.4(AMN):c.175C>T (p.Leu59=) rs199629027 0.00005
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser) rs1345352857 0.00004
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_030943.4(AMN):c.123C>G (p.Thr41=) rs758005290 0.00004
NM_030943.4(AMN):c.500C>T (p.Ser167Leu) rs774698023 0.00004
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_030943.4(AMN):c.110G>A (p.Ser37Asn) rs200648108 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.1200T>C (p.Ala400=) rs1410658337 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.296-10T>C rs1229295738 0.00001
NM_030943.4(AMN):c.296-3C>T rs764763091 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.760+10C>T rs1312771036 0.00001
NM_030943.4(AMN):c.790G>A (p.Ala264Thr) rs1450455717 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NC_000014.8:g.(?_103389228)_(103394842_?)del
NM_030943.4(AMN):c.105C>T (p.Asn35=)
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
NM_030943.4(AMN):c.1161dup (p.Arg388fs)
NM_030943.4(AMN):c.1169+10G>A
NM_030943.4(AMN):c.1169+14G>A
NM_030943.4(AMN):c.1169+16G>T
NM_030943.4(AMN):c.1169+17_1169+36del
NM_030943.4(AMN):c.1169+19C>T
NM_030943.4(AMN):c.1169+2T>C
NM_030943.4(AMN):c.1170-10A>G
NM_030943.4(AMN):c.1170-12C>T
NM_030943.4(AMN):c.1170-14C>T
NM_030943.4(AMN):c.1170-16C>T
NM_030943.4(AMN):c.1170-17C>T
NM_030943.4(AMN):c.1170-1G>C
NM_030943.4(AMN):c.1170-7C>A
NM_030943.4(AMN):c.1170-7C>T
NM_030943.4(AMN):c.1170-8G>A
NM_030943.4(AMN):c.1170-8G>C
NM_030943.4(AMN):c.1170-9C>T
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter)
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
NM_030943.4(AMN):c.1182C>T (p.His394=)
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
NM_030943.4(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.4(AMN):c.1255dup (p.Leu419fs)
NM_030943.4(AMN):c.1257+10C>A
NM_030943.4(AMN):c.1257+15G>A
NM_030943.4(AMN):c.1257+16G>A
NM_030943.4(AMN):c.1257+16G>C
NM_030943.4(AMN):c.1257+17G>A
NM_030943.4(AMN):c.1257+18G>A
NM_030943.4(AMN):c.1257+19G>A
NM_030943.4(AMN):c.1257+20G>A
NM_030943.4(AMN):c.1257+20G>C
NM_030943.4(AMN):c.1257+20del
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_030943.4(AMN):c.1257+7G>T
NM_030943.4(AMN):c.1257+9del
NM_030943.4(AMN):c.1257+9dup
NM_030943.4(AMN):c.1257G>A (p.Leu419=) rs2139313588
NM_030943.4(AMN):c.1258-14C>T
NM_030943.4(AMN):c.1258-15C>A
NM_030943.4(AMN):c.1258-15C>T
NM_030943.4(AMN):c.1258-4G>C
NM_030943.4(AMN):c.1258-5C>T
NM_030943.4(AMN):c.1258-8C>A
NM_030943.4(AMN):c.1258-9A>C
NM_030943.4(AMN):c.126G>A (p.Pro42=)
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
NM_030943.4(AMN):c.1279C>T (p.Leu427=)
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
NM_030943.4(AMN):c.1287G>A (p.Pro429=)
NM_030943.4(AMN):c.1287G>C (p.Pro429=) rs2139314090
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
NM_030943.4(AMN):c.1293G>A (p.Ala431=)
NM_030943.4(AMN):c.1296C>T (p.Ala432=)
NM_030943.4(AMN):c.1299A>G (p.Ala433=)
NM_030943.4(AMN):c.129C>T (p.Cys43=)
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs) rs2139314176
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
NM_030943.4(AMN):c.1314C>T (p.His438=)
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.1317T>C (p.Ser439=)
NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser) rs1354241478
NM_030943.4(AMN):c.1338C>T (p.Phe446=)
NM_030943.4(AMN):c.1341C>T (p.Ala447=)
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.1344G>A (p.Gly448=)
NM_030943.4(AMN):c.1347C>G (p.Ala449=)
NM_030943.4(AMN):c.1347C>T (p.Ala449=)
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3]) rs763564473
NM_030943.4(AMN):c.1350G>A (p.Glu450=)
NM_030943.4(AMN):c.1356G>A (p.Glu452=)
NM_030943.4(AMN):c.1359C>T (p.Ala453=)
NM_030943.4(AMN):c.135C>T (p.Gly45=)
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
NM_030943.4(AMN):c.141C>G (p.Ala47=)
NM_030943.4(AMN):c.141C>T (p.Ala47=)
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.153G>A (p.Pro51=)
NM_030943.4(AMN):c.153G>C (p.Pro51=)
NM_030943.4(AMN):c.153G>T (p.Pro51=)
NM_030943.4(AMN):c.156G>A (p.Ala52=)
NM_030943.4(AMN):c.162+12C>G
NM_030943.4(AMN):c.162+12C>T
NM_030943.4(AMN):c.162+13G>A
NM_030943.4(AMN):c.162+15C>T
NM_030943.4(AMN):c.162+19G>A
NM_030943.4(AMN):c.162+8G>A
NM_030943.4(AMN):c.163-11T>C
NM_030943.4(AMN):c.163-13C>A
NM_030943.4(AMN):c.163-16C>T
NM_030943.4(AMN):c.163-20G>A
NM_030943.4(AMN):c.163-3C>T
NM_030943.4(AMN):c.163-6C>T
NM_030943.4(AMN):c.163-7C>T
NM_030943.4(AMN):c.168G>A (p.Val56=)
NM_030943.4(AMN):c.170C>G (p.Ser57Ter)
NM_030943.4(AMN):c.177G>A (p.Leu59=)
NM_030943.4(AMN):c.180G>C (p.Val60=)
NM_030943.4(AMN):c.192C>T (p.His64=)
NM_030943.4(AMN):c.195C>T (p.Ala65=)
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
NM_030943.4(AMN):c.206T>A (p.Met69Lys) rs375774640
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
NM_030943.4(AMN):c.207+11G>A
NM_030943.4(AMN):c.207+11G>C
NM_030943.4(AMN):c.207+12C>A
NM_030943.4(AMN):c.207+13T>C
NM_030943.4(AMN):c.207+14G>T
NM_030943.4(AMN):c.207+17A>C
NM_030943.4(AMN):c.207+1G>A
NM_030943.4(AMN):c.207+8C>T
NM_030943.4(AMN):c.21C>A (p.Val7=) rs768522233
NM_030943.4(AMN):c.21C>T (p.Val7=) rs768522233
NM_030943.4(AMN):c.24G>T (p.Leu8=)
NM_030943.4(AMN):c.276G>C (p.Ser92=)
NM_030943.4(AMN):c.280C>T (p.Leu94=)
NM_030943.4(AMN):c.282G>A (p.Leu94=)
NM_030943.4(AMN):c.294G>A (p.Ala98=)
NM_030943.4(AMN):c.295+11C>T
NM_030943.4(AMN):c.295+15C>T
NM_030943.4(AMN):c.295+17G>A
NM_030943.4(AMN):c.295+1del rs386834171
NM_030943.4(AMN):c.295+20G>A
NM_030943.4(AMN):c.295+7C>G
NM_030943.4(AMN):c.295+7C>T
NM_030943.4(AMN):c.295+8G>A
NM_030943.4(AMN):c.295+9G>A
NM_030943.4(AMN):c.296-11C>T
NM_030943.4(AMN):c.296-16A>T
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.296-6del
NM_030943.4(AMN):c.296-9C>G
NM_030943.4(AMN):c.296-9C>T rs373204347
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs) rs2139308896
NM_030943.4(AMN):c.306C>A (p.Ala102=)
NM_030943.4(AMN):c.306C>T (p.Ala102=)
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
NM_030943.4(AMN):c.333C>T (p.Ser111=)
NM_030943.4(AMN):c.349C>T (p.Leu117=)
NM_030943.4(AMN):c.34C>T (p.Gln12Ter)
NM_030943.4(AMN):c.351G>C (p.Leu117=)
NM_030943.4(AMN):c.357C>T (p.Arg119=)
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
NM_030943.4(AMN):c.375T>C (p.Pro125=)
NM_030943.4(AMN):c.378C>T (p.Gly126=)
NM_030943.4(AMN):c.381C>G (p.Leu127=)
NM_030943.4(AMN):c.384C>T (p.Phe128=)
NM_030943.4(AMN):c.387C>T (p.Phe129=)
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
NM_030943.4(AMN):c.396C>T (p.Ala132=)
NM_030943.4(AMN):c.411C>A (p.Cys137Ter)
NM_030943.4(AMN):c.414C>T (p.Arg138=)
NM_030943.4(AMN):c.423C>T (p.Asp141=) rs2139309288
NM_030943.4(AMN):c.429C>T (p.Phe143=)
NM_030943.4(AMN):c.43+10G>A
NM_030943.4(AMN):c.43+11A>G
NM_030943.4(AMN):c.43+15C>T
NM_030943.4(AMN):c.43+16A>G
NM_030943.4(AMN):c.43+17C>G
NM_030943.4(AMN):c.43+17C>T
NM_030943.4(AMN):c.43+17_43+37del
NM_030943.4(AMN):c.43+18C>T
NM_030943.4(AMN):c.43+1G>T rs386834172
NM_030943.4(AMN):c.43+7C>T
NM_030943.4(AMN):c.43+8G>A rs1891084049
NM_030943.4(AMN):c.43+9G>A
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
NM_030943.4(AMN):c.44-15T>C
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.44-20C>T
NM_030943.4(AMN):c.44-2A>T
NM_030943.4(AMN):c.44-4C>T
NM_030943.4(AMN):c.44-6C>T
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_030943.4(AMN):c.44-9C>G
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
NM_030943.4(AMN):c.441T>C (p.Ser147=)
NM_030943.4(AMN):c.454G>A (p.Val152Met)
NM_030943.4(AMN):c.456G>A (p.Val152=)
NM_030943.4(AMN):c.459G>C (p.Gly153=) rs1286684210
NM_030943.4(AMN):c.462C>T (p.Leu154=)
NM_030943.4(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.4(AMN):c.46C>T (p.Leu16=)
NM_030943.4(AMN):c.480C>A (p.Pro160=)
NM_030943.4(AMN):c.480C>T (p.Pro160=)
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
NM_030943.4(AMN):c.493dup (p.Ser165fs)
NM_030943.4(AMN):c.504T>A (p.Ala168=)
NM_030943.4(AMN):c.510C>A (p.Gly170=)
NM_030943.4(AMN):c.513+14G>A
NM_030943.4(AMN):c.513+16A>C
NM_030943.4(AMN):c.513+19del
NM_030943.4(AMN):c.513+2T>C
NM_030943.4(AMN):c.513+2del
NM_030943.4(AMN):c.513+8C>G
NM_030943.4(AMN):c.513+8C>T rs764938272
NM_030943.4(AMN):c.514-15C>A
NM_030943.4(AMN):c.514-15C>T
NM_030943.4(AMN):c.514-19G>A
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.514-34G>C rs144077391
NM_030943.4(AMN):c.514-4G>C
NM_030943.4(AMN):c.514-4G>T
NM_030943.4(AMN):c.514-7C>T
NM_030943.4(AMN):c.516G>C (p.Thr172=)
NM_030943.4(AMN):c.522G>A (p.Thr174=)
NM_030943.4(AMN):c.525C>T (p.Arg175=)
NM_030943.4(AMN):c.534_535dup (p.Leu179fs)
NM_030943.4(AMN):c.545del (p.Phe182fs)
NM_030943.4(AMN):c.555C>T (p.Ser185=)
NM_030943.4(AMN):c.558C>T (p.Arg186=)
NM_030943.4(AMN):c.561G>A (p.Ala187=)
NM_030943.4(AMN):c.56C>T (p.Ala19Val) rs979571435
NM_030943.4(AMN):c.579C>T (p.His193=)
NM_030943.4(AMN):c.57G>A (p.Ala19=) rs145328398
NM_030943.4(AMN):c.582G>T (p.Gly194=)
NM_030943.4(AMN):c.587del (p.Gly196fs)
NM_030943.4(AMN):c.58del (p.Val20fs)
NM_030943.4(AMN):c.591G>T (p.Ala197=)
NM_030943.4(AMN):c.597C>T (p.Ser199=)
NM_030943.4(AMN):c.600G>A (p.Val200=)
NM_030943.4(AMN):c.603C>T (p.Gly201=)
NM_030943.4(AMN):c.618G>A (p.Ala206=)
NM_030943.4(AMN):c.618G>C (p.Ala206=)
NM_030943.4(AMN):c.627G>A (p.Ser209=)
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
NM_030943.4(AMN):c.630C>T (p.Gly210=)
NM_030943.4(AMN):c.633C>T (p.Cys211=)
NM_030943.4(AMN):c.651+10G>A
NM_030943.4(AMN):c.651+12C>A
NM_030943.4(AMN):c.651+13G>T
NM_030943.4(AMN):c.651+15A>C
NM_030943.4(AMN):c.651+16G>T
NM_030943.4(AMN):c.651+1G>T
NM_030943.4(AMN):c.651+9G>A
NM_030943.4(AMN):c.652-10C>T
NM_030943.4(AMN):c.652-12C>T
NM_030943.4(AMN):c.652-14G>A
NM_030943.4(AMN):c.652-14G>T rs949145775
NM_030943.4(AMN):c.652-20A>G
NM_030943.4(AMN):c.652-2A>G
NM_030943.4(AMN):c.652-4C>T
NM_030943.4(AMN):c.660G>A (p.Pro220=)
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.669C>A (p.Cys223Ter)
NM_030943.4(AMN):c.672G>A (p.Ala224=)
NM_030943.4(AMN):c.672G>T (p.Ala224=)
NM_030943.4(AMN):c.678G>A (p.Leu226=)
NM_030943.4(AMN):c.682C>G (p.Gln228Glu) rs1163522093
NM_030943.4(AMN):c.682C>T (p.Gln228Ter)
NM_030943.4(AMN):c.683_705dup (p.Gln236fs)
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.4(AMN):c.687C>T (p.Pro229=)
NM_030943.4(AMN):c.690G>A (p.Leu230=)
NM_030943.4(AMN):c.693C>T (p.Gly231=)
NM_030943.4(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.4(AMN):c.702C>T (p.Cys234=)
NM_030943.4(AMN):c.705C>A (p.Pro235=)
NM_030943.4(AMN):c.705C>G (p.Pro235=)
NM_030943.4(AMN):c.711C>T (p.Ala237=)
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
NM_030943.4(AMN):c.723C>T (p.Ser241=)
NM_030943.4(AMN):c.732G>A (p.Arg244=)
NM_030943.4(AMN):c.73del (p.Val25fs)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.753C>T (p.Asp251=)
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
NM_030943.4(AMN):c.756C>A (p.Leu252=)
NM_030943.4(AMN):c.756C>T (p.Leu252=)
NM_030943.4(AMN):c.75C>A (p.Val25=)
NM_030943.4(AMN):c.75C>T (p.Val25=)
NM_030943.4(AMN):c.760+12C>T
NM_030943.4(AMN):c.760+15C>T
NM_030943.4(AMN):c.760+16G>A
NM_030943.4(AMN):c.760+18G>A
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_030943.4(AMN):c.760+8C>T
NM_030943.4(AMN):c.760+9C>T
NM_030943.4(AMN):c.761-14C>T
NM_030943.4(AMN):c.761-20C>A
NM_030943.4(AMN):c.761-20C>T
NM_030943.4(AMN):c.761-4G>A
NM_030943.4(AMN):c.761-8C>G
NM_030943.4(AMN):c.761-9C>A
NM_030943.4(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.4(AMN):c.762A>G (p.Gly254=)
NM_030943.4(AMN):c.775C>T (p.Leu259=)
NM_030943.4(AMN):c.780C>A (p.Thr260=)
NM_030943.4(AMN):c.783C>T (p.His261=)
NM_030943.4(AMN):c.789C>T (p.Pro263=)
NM_030943.4(AMN):c.78del (p.Asn27fs)
NM_030943.4(AMN):c.791dup (p.Phe265fs) rs2139311251
NM_030943.4(AMN):c.798C>T (p.Asp266=)
NM_030943.4(AMN):c.801G>C (p.Leu267=) rs1163660664
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
NM_030943.4(AMN):c.816G>A (p.Ala272=)
NM_030943.4(AMN):c.81C>T (p.Asn27=)
NM_030943.4(AMN):c.831C>T (p.Thr277=)
NM_030943.4(AMN):c.843+10C>A
NM_030943.4(AMN):c.843+11del rs1467152225
NM_030943.4(AMN):c.843+13C>G
NM_030943.4(AMN):c.843+13C>T
NM_030943.4(AMN):c.843+14G>A
NM_030943.4(AMN):c.843+15C>T
NM_030943.4(AMN):c.843+20A>G
NM_030943.4(AMN):c.843+7G>A
NM_030943.4(AMN):c.844-11C>T
NM_030943.4(AMN):c.844-13T>A
NM_030943.4(AMN):c.844-15C>T
NM_030943.4(AMN):c.844-17C>G
NM_030943.4(AMN):c.844-17C>T
NM_030943.4(AMN):c.844-18C>A
NM_030943.4(AMN):c.855C>G (p.His285Gln)
NM_030943.4(AMN):c.855C>T (p.His285=)
NM_030943.4(AMN):c.861G>C (p.Leu287=)
NM_030943.4(AMN):c.862C>T (p.Gln288Ter)
NM_030943.4(AMN):c.864G>T (p.Gln288His)
NM_030943.4(AMN):c.870C>T (p.Ala290=)
NM_030943.4(AMN):c.873_874dup (p.Ser292fs) rs2139311797
NM_030943.4(AMN):c.888C>G (p.Arg296=)
NM_030943.4(AMN):c.890C>A (p.Ser297Ter)
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
NM_030943.4(AMN):c.914C>T (p.Thr305Met)
NM_030943.4(AMN):c.915G>A (p.Thr305=)
NM_030943.4(AMN):c.918G>A (p.Glu306=)
NM_030943.4(AMN):c.921C>T (p.Ile307=)
NM_030943.4(AMN):c.96C>T (p.Val32=)

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