ClinVar Miner

List of variants studied for Imerslund-Gräsbeck syndrome

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Minimum conflict level:
ClinVar version:
Total variants: 316
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HGVS dbSNP
NC_000014.9:g.(?_102870182)_(102930700_?)del
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) rs561240556
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) rs57335729
NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) rs767333853
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) rs147730705
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10363-3A>G rs765943248
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys) rs756614749
NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.3(CUBN):c.1230+1G>A rs386833766
NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.3(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.3(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) rs140184467
NM_001081.3(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.3(CUBN):c.1865del (p.Thr622fs) rs386833771
NM_001081.3(CUBN):c.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala) rs141089159
NM_001081.3(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) rs147752521
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln) rs770625165
NM_001081.3(CUBN):c.2445C>T (p.Val815=) rs116350428
NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.3(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.3(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.3(CUBN):c.252+1G>A rs386833776
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+130G>A rs4747297
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg) rs200383906
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu) rs757185023
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu) rs142292210
NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781
NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) rs142560894
NM_001081.3(CUBN):c.3330-439C>G rs386833782
NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala) rs201138390
NM_001081.3(CUBN):c.348+2T>C rs146047781
NM_001081.3(CUBN):c.349C>A (p.Leu117Met) rs1588661287
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708
NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591
NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787
NM_001081.3(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.489G>A (p.Lys163=) rs386833789
NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) rs200977290
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.516C>T (p.Asn172=) rs576450214
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.536G>T (p.Gly179Val) rs370373276
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys) rs139369652
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile) rs776108051
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) rs76789390
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met) rs140202552
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.6268A>G (p.Lys2090Glu) rs201374966
NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289
NM_001081.3(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913
NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) rs115303408
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) rs149507036
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr) rs1413359792
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro) rs752992672
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001081.3(CUBN):c.7210+9A>G rs117711403
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro) rs769747844
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293
NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) rs201001705
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) rs137998687
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237
NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) rs147742103
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val) rs749282139
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) rs200235278
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe) rs1588623068
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008
NM_001081.3(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8905+137T>A rs780847
NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) rs374477671
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001081.3(CUBN):c.8968G>A (p.Val2990Ile) rs115888073
NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) rs78201384
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr) rs569915247
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp) rs746114034
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) rs559567467
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)
NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr)
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915
NM_001081.4(CUBN):c.1947+9T>A rs376950340
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter)
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg)
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983
NM_001081.4(CUBN):c.2792-6C>G rs185269080
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg)
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln)
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010
NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys)
NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln)
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.349-8A>G rs188559699
NM_001081.4(CUBN):c.3546G>A (p.Pro1182=) rs369417721
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) rs1588604587
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg)
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4468A>T (p.Thr1490Ser)
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429
NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg)
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)
NM_001081.4(CUBN):c.4671T>G (p.Leu1557=) rs151197305
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731
NM_001081.4(CUBN):c.4721T>C (p.Met1574Thr)
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=) rs1588515934
NM_001081.4(CUBN):c.489+2_489+4dup rs1588658746
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp)
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791
NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser)
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)
NM_001081.4(CUBN):c.5522C>T (p.Thr1841Met)
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.5840C>A rs147617753
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg) rs141489700
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558
NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr)
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797
NM_001081.4(CUBN):c.6125-2A>G rs75386064
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993
NM_001081.4(CUBN):c.657G>A (p.Gly219=) rs142553474
NM_001081.4(CUBN):c.7001-2A>T
NM_001081.4(CUBN):c.7037TTG[1] (p.Val2347del)
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe) rs141819241
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=) rs201002903
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.7559C>T (p.Ser2520Leu)
NM_001081.4(CUBN):c.7587T>C (p.Ser2529=) rs1199891308
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu) rs1588623316
NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile)
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
NM_001081.4(CUBN):c.9204C>T (p.Ile3068=) rs117755237
NM_001081.4(CUBN):c.9206C>T (p.Thr3069Ile) rs117400821
NM_001081.4(CUBN):c.9207C>A (p.Thr3069=) rs117936668
NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg)
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621
NM_001081.4(CUBN):c.9987G>A (p.Ser3329=) rs80308930
NM_030943.3(AMN):c.1006+16_1006+30del rs386834160
NM_030943.3(AMN):c.1006+34_1006+48del rs386834161
NM_030943.3(AMN):c.1006+36_1006+50del rs386834162
NM_030943.3(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.3(AMN):c.1170-37C>G rs148815688
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_030943.3(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.3(AMN):c.1257+10C>T rs386834166
NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) rs386834167
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.3(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.3(AMN):c.165G>A (p.Met55Ile) rs61731158
NM_030943.3(AMN):c.208-1G>C rs386834169
NM_030943.3(AMN):c.295+1del rs386834171
NM_030943.3(AMN):c.296-9C>T rs373204347
NM_030943.3(AMN):c.363G>A (p.Gly121=) rs141455061
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.43+1G>T rs386834172
NM_030943.3(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.3(AMN):c.514-34G>A rs144077391
NM_030943.3(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.3(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.3(AMN):c.760+1G>A rs1555381485
NM_030943.3(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.3(AMN):c.829A>G (p.Thr277Ala) rs146499374
NM_030943.3(AMN):c.844-1G>C rs969552874
NM_030943.3(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_030943.3(AMN):c.989C>A (p.Ala330Glu) rs542237999
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064
NM_030943.4(AMN):c.123C>G (p.Thr41=) rs758005290
NM_030943.4(AMN):c.1348_1353GAGGCC[3] (p.450_451EA[3]) rs763564473
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
NM_030943.4(AMN):c.208-10T>C rs115851517
NM_030943.4(AMN):c.208-2A>G rs386834170
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567
NM_030943.4(AMN):c.324C>T (p.Asp108=) rs7140429
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450
NM_030943.4(AMN):c.57G>T (p.Ala19=) rs145328398
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721
NM_030943.4(AMN):c.791dup (p.Phe265fs)
NM_030943.4(AMN):c.805C>T (p.Arg269Trp)
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960
NM_030943.4(AMN):c.843+11del rs1467152225
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857

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