ClinVar Miner

List of variants reported as uncertain significance for congenital isolated hyperinsulinism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000525.4(KCNJ11):c.*376C>T rs5208 0.01164
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_000525.4(KCNJ11):c.*92C>T rs5212 0.00626
NM_000525.4(KCNJ11):c.*288G>A rs5209 0.00590
NM_000525.4(KCNJ11):c.*487A>G rs79457490 0.00588
NM_000525.4(KCNJ11):c.*529G>A rs115826080 0.00510
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000525.4(KCNJ11):c.*1168G>A rs182349583 0.00391
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_000525.4(KCNJ11):c.*686A>G rs147282653 0.00324
NM_000525.4(KCNJ11):c.*848A>G rs5206 0.00291
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_003051.4(SLC16A1):c.-92G>T rs144301005 0.00214
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_003051.4(SLC16A1):c.*629C>T rs540946001 0.00189
NM_000525.4(KCNJ11):c.*1197G>A rs191682072 0.00187
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_003051.4(SLC16A1):c.*948G>A rs543171131 0.00129
NM_003051.4(SLC16A1):c.*104C>T rs182505461 0.00128
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000525.4(KCNJ11):c.*862G>T rs547635594 0.00115
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_003051.3(SLC16A1):c.-349G>A rs750771668 0.00086
NM_005327.7(HADH):c.*377G>A rs148809781 0.00084
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_005327.4(HADH):c.-51delC rs574132278 0.00074
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_005271.5(GLUD1):c.*1501G>C rs768450394 0.00068
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_003051.4(SLC16A1):c.*1654A>G rs761298128 0.00056
NM_005327.4(HADH):c.-115delG rs537335460 0.00053
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_005327.4(HADH):c.-203A>G rs376591232 0.00049
NM_003051.4(SLC16A1):c.*516C>G rs754537571 0.00048
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000525.4(KCNJ11):c.-546G>T rs886048045 0.00041
NM_003051.3(SLC16A1):c.-248G>T rs762453730 0.00041
NM_000162.5(GCK):c.*764C>T rs185418856 0.00038
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185 0.00038
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=) rs150246870 0.00031
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_005271.5(GLUD1):c.*1419T>G rs895697576 0.00024
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_003051.3(SLC16A1):c.-360G>A rs758825428 0.00022
NM_005271.5(GLUD1):c.*970A>G rs760207211 0.00022
NM_003051.4(SLC16A1):c.-201T>A rs753315328 0.00021
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) rs554138665 0.00021
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_000525.4(KCNJ11):c.*546G>A rs886048037 0.00016
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_000525.4(KCNJ11):c.*697G>A rs117976105 0.00014
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347 0.00011
NM_000352.6(ABCC8):c.4119+15C>T rs58368439 0.00011
NM_003051.4(SLC16A1):c.*603T>C rs527658261 0.00011
NM_005327.7(HADH):c.*142G>A rs560215584 0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.723C>T (p.His241=) rs147276708 0.00010
NM_003051.4(SLC16A1):c.*1801A>G rs750135904 0.00010
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_005327.7(HADH):c.-34C>T rs748286204 0.00009
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560 0.00008
NM_005271.5(GLUD1):c.*998C>T rs766730554 0.00008
NM_005327.7(HADH):c.*305T>A rs3822294 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.621C>T (p.Pro207=) rs765043940 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569 0.00006
NM_000525.4(KCNJ11):c.*1055T>A rs886048032 0.00006
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) rs529884745 0.00006
NM_003051.4(SLC16A1):c.*946G>A rs867810008 0.00006
NM_005271.5(GLUD1):c.1279-6G>A rs374548261 0.00006
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=) rs756259685 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005327.7(HADH):c.*335C>A rs780532720 0.00006
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_003051.4(SLC16A1):c.*657C>A rs911644501 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) rs763794263 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_003051.3(SLC16A1):c.-218G>A rs761334745 0.00004
NM_003051.4(SLC16A1):c.*77C>T rs868304120 0.00004
NM_005327.7(HADH):c.*59G>A rs529762487 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_000162.5(GCK):c.-279C>T rs997877536 0.00003
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.413-15A>G rs758744263 0.00003
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=) rs369810811 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000525.4(KCNJ11):c.*311C>T rs886048038 0.00003
NM_000525.4(KCNJ11):c.*849C>G rs1272490539 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_003051.3(SLC16A1):c.-324T>G rs1019615427 0.00003
NM_003051.4(SLC16A1):c.*1312G>C rs886045059 0.00003
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile) rs200802632 0.00003
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=) rs773196238 0.00003
NM_005271.5(GLUD1):c.*1270C>T rs886047370 0.00003
NM_005271.5(GLUD1):c.*1464C>T rs886047368 0.00003
NM_005271.5(GLUD1):c.*1548C>T rs886047366 0.00003
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00003
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp) rs368710356 0.00002
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) rs774965446 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.-179C>T rs776949660 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp) rs757621300 0.00002
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=) rs779279429 0.00002
NM_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.55C>T (p.Leu19=) rs892387294 0.00002
NM_000162.5(GCK):c.*723A>G rs886062345 0.00001
NM_000162.5(GCK):c.-449G>A rs1375544246 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.580-11C>T rs370016334 0.00001
NM_000352.6(ABCC8):c.148+3G>A rs996321405 0.00001
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054 0.00001
NM_000352.6(ABCC8):c.1924-9C>T rs1218098329 0.00001
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.2694+15G>A rs886048051 0.00001
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 0.00001
NM_000352.6(ABCC8):c.4545+9T>C rs775018351 0.00001
NM_000352.6(ABCC8):c.507C>T (p.Phe169=) rs755745806 0.00001
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930 0.00001
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) rs776498313 0.00001
NM_000525.4(KCNJ11):c.*1220G>A rs1457465996 0.00001
NM_000525.4(KCNJ11):c.*1562A>G rs886048031 0.00001
NM_000525.4(KCNJ11):c.*701A>T rs5207 0.00001
NM_000525.4(KCNJ11):c.-37C>T rs753392628 0.00001
NM_000525.4(KCNJ11):c.-515G>A rs886048044 0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635 0.00001
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=) rs1450567888 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_003051.4(SLC16A1):c.*1018T>G rs774371594 0.00001
NM_003051.4(SLC16A1):c.*1134G>A rs778106916 0.00001
NM_003051.4(SLC16A1):c.*137A>T rs1223206132 0.00001
NM_003051.4(SLC16A1):c.*815G>A rs556305447 0.00001
NM_003051.4(SLC16A1):c.-163T>C rs886045088 0.00001
NM_003051.4(SLC16A1):c.-87C>T rs886045087 0.00001
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr) rs756006376 0.00001
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=) rs17852382 0.00001
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser) rs1461742764 0.00001
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=) rs775755027 0.00001
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) rs549501840 0.00001
NM_005271.5(GLUD1):c.*1181C>A rs542298445 0.00001
NM_005271.5(GLUD1):c.*1436G>A rs886047369 0.00001
NM_005271.5(GLUD1):c.*469C>A rs566474794 0.00001
NM_005271.5(GLUD1):c.*496G>A rs886047372 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005327.4(HADH):c.-86G>T rs528952923 0.00001
NM_005327.7(HADH):c.*279C>A rs1290272212 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.-36C>T rs746854470 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005327.7(HADH):c.823G>A (p.Asp275Asn) rs150766162 0.00001
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-102G>C rs781377703
NM_000162.5(GCK):c.-137C>G rs2096324530
NM_000162.5(GCK):c.-396C>G rs2096324894
NM_000162.5(GCK):c.-456G>A rs757266656
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) rs1415041911
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) rs1257648811
NM_000162.5(GCK):c.363+10G>C rs758495950
NM_000162.5(GCK):c.675C>T (p.Ile225=) rs772754004
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.792C>A (p.Gly264=) rs754094813
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe) rs1956875186
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=) rs1956635063
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val) rs1956631543
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.2256-9C>T rs886048052
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=) rs1354438772
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3558-6C>G rs886048050
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4199-8C>T rs886048048
NM_000352.6(ABCC8):c.4307+13A>C rs886048047
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val) rs1953847411
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn) rs1957204723
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr) rs1433841842
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val) rs763302648
NM_000525.4(KCNJ11):c.*1037G>T rs767140617
NM_000525.4(KCNJ11):c.*1415G>A rs955060881
NM_000525.4(KCNJ11):c.*50G>A rs886048041
NM_000525.4(KCNJ11):c.*678C>T rs886048036
NM_000525.4(KCNJ11):c.*732C>T rs886048035
NM_000525.4(KCNJ11):c.*842C>G rs1591693562
NM_000525.4(KCNJ11):c.*937C>T rs886048033
NM_000525.4(KCNJ11):c.*99C>G rs886048040
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.-424C>T rs1953601577
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=) rs1953591194
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln) rs865963367
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=) rs886048042
NM_003051.3(SLC16A1):c.-214C>G rs183726141
NM_003051.3(SLC16A1):c.-226G>A rs886045089
NM_003051.3(SLC16A1):c.-249C>T rs60953496
NM_003051.3(SLC16A1):c.-313T>C rs886045090
NM_003051.3(SLC16A1):c.-314A>G rs886045091
NM_003051.3(SLC16A1):c.-316G>A rs1313637478
NM_003051.4(SLC16A1):c.*1044T>G rs1190989254
NM_003051.4(SLC16A1):c.*1051G>A rs886045064
NM_003051.4(SLC16A1):c.*1064G>T rs886045063
NM_003051.4(SLC16A1):c.*1071T>C rs1648368024
NM_003051.4(SLC16A1):c.*1072G>T rs886045062
NM_003051.4(SLC16A1):c.*361G>T rs1407575522
NM_003051.4(SLC16A1):c.*739T>C rs570060559
NM_003051.4(SLC16A1):c.*739T>G rs570060559
NM_003051.4(SLC16A1):c.1228+6G>A rs190615745
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala) rs886045067
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=) rs145916504
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser) rs200143982
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu) rs766830652
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=) rs760137043
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu) rs774823539
NM_005271.5(GLUD1):c.*1139T>C rs1845608491
NM_005271.5(GLUD1):c.*1211T>C rs1845605578
NM_005271.5(GLUD1):c.*1252T>C rs886047371
NM_005271.5(GLUD1):c.*1515A>G rs1845594094
NM_005271.5(GLUD1):c.*1545C>T rs886047367
NM_005271.5(GLUD1):c.*205A>G rs886047373
NM_005271.5(GLUD1):c.*64T>C rs760101776
NM_005271.5(GLUD1):c.*64T>G rs760101776
NM_005271.5(GLUD1):c.*868A>C rs1430742705
NM_005271.5(GLUD1):c.-44C>T rs886047379
NM_005271.5(GLUD1):c.1279-3T>C rs1845868081
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.546T>C (p.Ala182=) rs886047378
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg) rs886047377
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter) rs886047375
NM_005327.4(HADH):c.-195A>C rs886058979
NM_005327.4(HADH):c.-195A>G rs886058979
NM_005327.4(HADH):c.-56C>A rs770197760
NM_005327.7(HADH):c.*661dup rs886058981
NM_005327.7(HADH):c.132+6C>G rs772843585
NM_005327.7(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) rs780574282
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) rs1736344235

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