ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease type III by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 400
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HGVS dbSNP
NC_000001.10:g.(?_100314640)_(100390579_?)dup
NC_000001.10:g.(?_100316579)_(100387227_?)dup
NM_000642.3(AGL):c.1010A>C (p.Gln337Pro)
NM_000642.3(AGL):c.101G>A (p.Arg34Gln) rs746265668
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1033G>A (p.Gly345Ser)
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
NM_000642.3(AGL):c.1064C>A (p.Thr355Lys) rs557516658
NM_000642.3(AGL):c.1064C>T (p.Thr355Met) rs557516658
NM_000642.3(AGL):c.106G>A (p.Gly36Ser)
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174
NM_000642.3(AGL):c.1076_1078dup (p.Pro359dup)
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1082+3A>G
NM_000642.3(AGL):c.1082+4T>A rs781204563
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
NM_000642.3(AGL):c.1186-3C>G
NM_000642.3(AGL):c.1187C>T (p.Ala396Val) rs747879201
NM_000642.3(AGL):c.1196G>A (p.Cys399Tyr) rs1336333560
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
NM_000642.3(AGL):c.11G>A (p.Ser4Asn)
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg) rs200459772
NM_000642.3(AGL):c.1234C>T (p.His412Tyr)
NM_000642.3(AGL):c.1235A>G (p.His412Arg)
NM_000642.3(AGL):c.1237G>A (p.Gly413Ser)
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822
NM_000642.3(AGL):c.1250G>C (p.Gly417Ala) rs754419745
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
NM_000642.3(AGL):c.1284G>A (p.Arg428=)
NM_000642.3(AGL):c.1310T>G (p.Ile437Arg)
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
NM_000642.3(AGL):c.1333A>G (p.Met445Val) rs140375476
NM_000642.3(AGL):c.136G>A (p.Val46Met) rs762935611
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
NM_000642.3(AGL):c.1372C>A (p.His458Asn)
NM_000642.3(AGL):c.1381T>C (p.Trp461Arg)
NM_000642.3(AGL):c.1388T>A (p.Met463Lys)
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg) rs146493448
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu) rs146493448
NM_000642.3(AGL):c.1423+3A>G rs766117687
NM_000642.3(AGL):c.1424-7T>A
NM_000642.3(AGL):c.1424G>T (p.Gly475Val) rs538916479
NM_000642.3(AGL):c.1429G>C (p.Glu477Gln)
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721
NM_000642.3(AGL):c.1457G>A (p.Cys486Tyr)
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743
NM_000642.3(AGL):c.1484A>G (p.Tyr495Cys)
NM_000642.3(AGL):c.151C>T (p.Pro51Ser)
NM_000642.3(AGL):c.1526T>G (p.Met509Arg)
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049
NM_000642.3(AGL):c.1541A>G (p.Glu514Gly)
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378
NM_000642.3(AGL):c.1553C>G (p.Thr518Ser) rs1293030648
NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp)
NM_000642.3(AGL):c.1570C>T (p.Arg524Cys)
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482
NM_000642.3(AGL):c.1582T>A (p.Cys528Ser) rs1570438541
NM_000642.3(AGL):c.1611+6G>A
NM_000642.3(AGL):c.1612-8T>A rs1557762522
NM_000642.3(AGL):c.1615A>G (p.Met539Val) rs764106633
NM_000642.3(AGL):c.1627G>A (p.Ala543Thr)
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
NM_000642.3(AGL):c.1661C>T (p.Ala554Val)
NM_000642.3(AGL):c.1671C>A (p.Phe557Leu)
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn) rs1365513585
NM_000642.3(AGL):c.1693A>G (p.Asn565Asp)
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312
NM_000642.3(AGL):c.1715G>T (p.Gly572Val)
NM_000642.3(AGL):c.1718_1720dup (p.Ile573dup) rs1553186221
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905
NM_000642.3(AGL):c.1735+5dup rs766616589
NM_000642.3(AGL):c.1768G>A (p.Gly590Ser)
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
NM_000642.3(AGL):c.1846A>G (p.Ile616Val) rs371115206
NM_000642.3(AGL):c.1864A>C (p.Met622Leu)
NM_000642.3(AGL):c.1864A>G (p.Met622Val) rs145517369
NM_000642.3(AGL):c.186C>G (p.Phe62Leu)
NM_000642.3(AGL):c.1874C>T (p.Thr625Met) rs147569805
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
NM_000642.3(AGL):c.1883A>G (p.Asn628Ser)
NM_000642.3(AGL):c.188G>A (p.Arg63His)
NM_000642.3(AGL):c.1892C>G (p.Pro631Arg) rs1553186376
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) rs138823746
NM_000642.3(AGL):c.1899+3A>G
NM_000642.3(AGL):c.1899+9C>G
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.1936A>G (p.Ile646Val) rs376666809
NM_000642.3(AGL):c.1939G>A (p.Val647Ile) rs770836797
NM_000642.3(AGL):c.193C>G (p.Leu65Val) rs772086117
NM_000642.3(AGL):c.1943C>G (p.Ser648Cys) rs1229397880
NM_000642.3(AGL):c.1945A>G (p.Met649Val)
NM_000642.3(AGL):c.1972A>G (p.Arg658Gly)
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129
NM_000642.3(AGL):c.2001+8_2001+9delinsCG
NM_000642.3(AGL):c.2011G>A (p.Val671Ile)
NM_000642.3(AGL):c.2024G>A (p.Arg675Gln) rs752995564
NM_000642.3(AGL):c.2051C>T (p.Ala684Val) rs1284824337
NM_000642.3(AGL):c.2053T>G (p.Leu685Val)
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)
NM_000642.3(AGL):c.2069G>T (p.Gly690Val) rs749075109
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.2089G>A (p.Gly697Ser) rs771211030
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys) rs771211030
NM_000642.3(AGL):c.2091C>T (p.Gly697=) rs759619501
NM_000642.3(AGL):c.209C>T (p.Pro70Leu)
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)
NM_000642.3(AGL):c.2125C>T (p.His709Tyr)
NM_000642.3(AGL):c.2137G>A (p.Gly713Arg) rs763281839
NM_000642.3(AGL):c.2157+4A>T rs1178861512
NM_000642.3(AGL):c.2172A>G (p.Gln724=) rs1553186596
NM_000642.3(AGL):c.2181_2183del (p.Glu727del)
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.2209C>T (p.Pro737Ser) rs1369361901
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile)
NM_000642.3(AGL):c.2215A>G (p.Ile739Val)
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002
NM_000642.3(AGL):c.222A>T (p.Glu74Asp)
NM_000642.3(AGL):c.223G>A (p.Asp75Asn)
NM_000642.3(AGL):c.2242A>G (p.Arg748Gly)
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.224A>G (p.Asp75Gly) rs142368729
NM_000642.3(AGL):c.2264A>G (p.Lys755Arg)
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu) rs746130741
NM_000642.3(AGL):c.2279G>A (p.Ser760Asn)
NM_000642.3(AGL):c.2303T>A (p.Ile768Asn)
NM_000642.3(AGL):c.2308+4A>G rs773741361
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040
NM_000642.3(AGL):c.2310C>T (p.Gly770=) rs1570450663
NM_000642.3(AGL):c.2314A>C (p.Ile772Leu) rs1237999305
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
NM_000642.3(AGL):c.235A>G (p.Lys79Glu)
NM_000642.3(AGL):c.2372A>G (p.Lys791Arg)
NM_000642.3(AGL):c.2386A>G (p.Ile796Val)
NM_000642.3(AGL):c.239A>G (p.Tyr80Cys) rs1284127927
NM_000642.3(AGL):c.2402A>G (p.Asp801Gly) rs778492877
NM_000642.3(AGL):c.2413G>A (p.Glu805Lys)
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227
NM_000642.3(AGL):c.2441A>C (p.Glu814Ala) rs1316494416
NM_000642.3(AGL):c.2446A>G (p.Lys816Glu)
NM_000642.3(AGL):c.2465G>C (p.Gly822Ala) rs752820851
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln) rs752153469
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902
NM_000642.3(AGL):c.2505A>G (p.Ile835Met)
NM_000642.3(AGL):c.2506G>A (p.Glu836Lys) rs781573434
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr)
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404
NM_000642.3(AGL):c.2560C>A (p.Pro854Thr)
NM_000642.3(AGL):c.2571A>G (p.Gln857=) rs373619867
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396
NM_000642.3(AGL):c.2578G>A (p.Val860Ile)
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112
NM_000642.3(AGL):c.2597A>T (p.His866Leu)
NM_000642.3(AGL):c.25A>G (p.Ile9Val) rs1263396578
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606
NM_000642.3(AGL):c.2623A>G (p.Lys875Glu) rs750932668
NM_000642.3(AGL):c.2632A>C (p.Ser878Arg) rs146049603
NM_000642.3(AGL):c.2654A>G (p.Asp885Gly) rs867149434
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu) rs149331873
NM_000642.3(AGL):c.265G>T (p.Gly89Cys)
NM_000642.3(AGL):c.2671C>T (p.Pro891Ser) rs777738895
NM_000642.3(AGL):c.2677G>C (p.Ala893Pro)
NM_000642.3(AGL):c.2678C>T (p.Ala893Val)
NM_000642.3(AGL):c.2681+4dup rs754242194
NM_000642.3(AGL):c.2687C>G (p.Ala896Gly)
NM_000642.3(AGL):c.2694A>T (p.Arg898Ser) rs757076841
NM_000642.3(AGL):c.2707G>A (p.Glu903Lys)
NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet) rs1288036533
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559
NM_000642.3(AGL):c.2729G>A (p.Arg910Gln)
NM_000642.3(AGL):c.2761G>A (p.Gly921Arg)
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2798A>G (p.Tyr933Cys)
NM_000642.3(AGL):c.2818A>G (p.Met940Val)
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)
NM_000642.3(AGL):c.2884T>A (p.Ser962Thr)
NM_000642.3(AGL):c.2897T>C (p.Met966Thr)
NM_000642.3(AGL):c.2903A>G (p.Asp968Gly) rs1447342458
NM_000642.3(AGL):c.2909T>C (p.Val970Ala) rs1570463733
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
NM_000642.3(AGL):c.292G>A (p.Gly98Arg) rs1557746870
NM_000642.3(AGL):c.293+3A>G rs375459662
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763
NM_000642.3(AGL):c.2942T>C (p.Ile981Thr)
NM_000642.3(AGL):c.2944G>A (p.Ala982Thr) rs781463740
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2949+6T>C
NM_000642.3(AGL):c.2950-5T>G rs760229683
NM_000642.3(AGL):c.2950G>A (p.Val984Ile) rs1160721945
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.3010C>G (p.Pro1004Ala)
NM_000642.3(AGL):c.3020T>C (p.Phe1007Ser)
NM_000642.3(AGL):c.3026C>T (p.Ala1009Val) rs200129247
NM_000642.3(AGL):c.3040G>A (p.Ala1014Thr)
NM_000642.3(AGL):c.3046A>T (p.Thr1016Ser)
NM_000642.3(AGL):c.3049A>G (p.Thr1017Ala)
NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)
NM_000642.3(AGL):c.3077T>C (p.Met1026Thr) rs1570464667
NM_000642.3(AGL):c.3084-5T>G
NM_000642.3(AGL):c.30A>T (p.Leu10Phe) rs746137555
NM_000642.3(AGL):c.310G>A (p.Gly104Arg) rs745610775
NM_000642.3(AGL):c.3116A>T (p.His1039Leu)
NM_000642.3(AGL):c.3119T>C (p.Leu1040Pro)
NM_000642.3(AGL):c.311G>T (p.Gly104Val)
NM_000642.3(AGL):c.3124T>G (p.Leu1042Val)
NM_000642.3(AGL):c.3127G>T (p.Gly1043Cys) rs1422201126
NM_000642.3(AGL):c.3133G>C (p.Val1045Leu) rs747339245
NM_000642.3(AGL):c.3166C>G (p.Leu1056Val) rs774124715
NM_000642.3(AGL):c.317A>T (p.Tyr106Phe)
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)
NM_000642.3(AGL):c.3199C>G (p.Pro1067Ala)
NM_000642.3(AGL):c.3207G>C (p.Arg1069Ser)
NM_000642.3(AGL):c.3242G>A (p.Cys1081Tyr) rs147375385
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
NM_000642.3(AGL):c.3278C>A (p.Ser1093Tyr) rs1316336745
NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu) rs762157090
NM_000642.3(AGL):c.3283A>G (p.Ile1095Val)
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256
NM_000642.3(AGL):c.3310T>G (p.Phe1104Val)
NM_000642.3(AGL):c.3311T>G (p.Phe1104Cys)
NM_000642.3(AGL):c.3316G>A (p.Ala1106Thr)
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys) rs773625464
NM_000642.3(AGL):c.3347G>T (p.Arg1116Leu) rs746779518
NM_000642.3(AGL):c.3359C>G (p.Ala1120Gly) rs1233797859
NM_000642.3(AGL):c.3362+5G>T
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val) rs1225426505
NM_000642.3(AGL):c.3386G>A (p.Gly1129Asp)
NM_000642.3(AGL):c.3400G>A (p.Gly1134Ser) rs146615251
NM_000642.3(AGL):c.340C>T (p.Arg114Cys) rs760763834
NM_000642.3(AGL):c.3416T>G (p.Leu1139Arg) rs1281040074
NM_000642.3(AGL):c.3419T>G (p.Leu1140Arg)
NM_000642.3(AGL):c.341G>A (p.Arg114His) rs150146360
NM_000642.3(AGL):c.341G>C (p.Arg114Pro) rs150146360
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
NM_000642.3(AGL):c.3457G>A (p.Ala1153Thr)
NM_000642.3(AGL):c.3477G>C (p.Gln1159His) rs1570482572
NM_000642.3(AGL):c.3493T>A (p.Cys1165Ser) rs1570482637
NM_000642.3(AGL):c.3528G>T (p.Lys1176Asn)
NM_000642.3(AGL):c.3531C>G (p.Cys1177Trp)
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980
NM_000642.3(AGL):c.3535G>T (p.Val1179Phe) rs1553190315
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3548A>G (p.Tyr1183Cys)
NM_000642.3(AGL):c.3551C>T (p.Pro1184Leu) rs374498927
NM_000642.3(AGL):c.3560A>G (p.Asp1187Gly)
NM_000642.3(AGL):c.3581G>A (p.Gly1194Asp)
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.3584C>T (p.Thr1195Ile) rs148930543
NM_000642.3(AGL):c.3611T>C (p.Ile1204Thr) rs777686689
NM_000642.3(AGL):c.3626A>G (p.Gln1209Arg)
NM_000642.3(AGL):c.3634A>T (p.Met1212Leu)
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
NM_000642.3(AGL):c.3652C>G (p.Arg1218Gly)
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln) rs772774189
NM_000642.3(AGL):c.365T>C (p.Leu122Pro) rs1557747438
NM_000642.3(AGL):c.3670C>T (p.Pro1224Ser) rs1417784168
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
NM_000642.3(AGL):c.3683G>A (p.Arg1228Gln) rs147214287
NM_000642.3(AGL):c.3692A>G (p.Lys1231Arg) rs750507211
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875
NM_000642.3(AGL):c.3700+6G>A
NM_000642.3(AGL):c.372G>A (p.Leu124=)
NM_000642.3(AGL):c.3746A>T (p.Tyr1249Phe) rs1198709856
NM_000642.3(AGL):c.3755A>G (p.Asn1252Ser)
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu) rs1324875747
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)
NM_000642.3(AGL):c.3789G>T (p.Met1263Ile)
NM_000642.3(AGL):c.3802A>G (p.Arg1268Gly)
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser) rs892629109
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)
NM_000642.3(AGL):c.3836+3A>G rs372921189
NM_000642.3(AGL):c.3836+4G>A rs1488570554
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu) rs778956378
NM_000642.3(AGL):c.385C>G (p.Leu129Val)
NM_000642.3(AGL):c.385C>T (p.Leu129Phe) rs749109793
NM_000642.3(AGL):c.3883C>G (p.Arg1295Gly) rs1238498134
NM_000642.3(AGL):c.3883C>T (p.Arg1295Cys)
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863
NM_000642.3(AGL):c.3884G>T (p.Arg1295Leu) rs140481863
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250
NM_000642.3(AGL):c.3912T>A (p.Asn1304Lys) rs1570508523
NM_000642.3(AGL):c.3913A>G (p.Ile1305Val)
NM_000642.3(AGL):c.3920C>G (p.Pro1307Arg)
NM_000642.3(AGL):c.3927T>A (p.His1309Gln)
NM_000642.3(AGL):c.3938T>G (p.Val1313Gly) rs1557789904
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly)
NM_000642.3(AGL):c.3968C>T (p.Ser1323Leu)
NM_000642.3(AGL):c.3976G>A (p.Glu1326Lys)
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly) rs777095374
NM_000642.3(AGL):c.3990A>C (p.Lys1330Asn)
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636
NM_000642.3(AGL):c.4079G>A (p.Gly1360Asp) rs1361507097
NM_000642.3(AGL):c.4081A>C (p.Ile1361Leu)
NM_000642.3(AGL):c.4120G>C (p.Asp1374His) rs1553192955
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val)
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.4177A>G (p.Thr1393Ala)
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu) rs772026557
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met) rs1553193234
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_000642.3(AGL):c.4225C>T (p.Leu1409Phe)
NM_000642.3(AGL):c.4231C>T (p.Pro1411Ser) rs1557792779
NM_000642.3(AGL):c.4259+3A>T
NM_000642.3(AGL):c.4260-3C>T
NM_000642.3(AGL):c.4261G>A (p.Asp1421Asn)
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157
NM_000642.3(AGL):c.4271A>T (p.Tyr1424Phe)
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp) rs146154694
NM_000642.3(AGL):c.4301A>G (p.Asn1434Ser)
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
NM_000642.3(AGL):c.4318G>A (p.Ala1440Thr)
NM_000642.3(AGL):c.4325G>A (p.Gly1442Asp)
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile) rs143815159
NM_000642.3(AGL):c.4336C>T (p.His1446Tyr)
NM_000642.3(AGL):c.4337A>G (p.His1446Arg)
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225
NM_000642.3(AGL):c.4363A>T (p.Ile1455Phe) rs766952829
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
NM_000642.3(AGL):c.4382C>G (p.Ala1461Gly) rs749209422
NM_000642.3(AGL):c.4405A>G (p.Met1469Val) rs747171944
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
NM_000642.3(AGL):c.4436T>C (p.Val1479Ala) rs770178156
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115
NM_000642.3(AGL):c.4450G>T (p.Val1484Phe)
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr) rs374651629
NM_000642.3(AGL):c.4492A>G (p.Lys1498Glu)
NM_000642.3(AGL):c.4564A>G (p.Ile1522Val)
NM_000642.3(AGL):c.4570A>G (p.Thr1524Ala)
NM_000642.3(AGL):c.4583C>T (p.Thr1528Ile)
NM_000642.3(AGL):c.467A>G (p.Asn156Ser) rs369767463
NM_000642.3(AGL):c.4G>A (p.Gly2Arg)
NM_000642.3(AGL):c.545A>C (p.Asn182Thr)
NM_000642.3(AGL):c.566A>G (p.Asn189Ser) rs1571232301
NM_000642.3(AGL):c.60G>C (p.Lys20Asn)
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554
NM_000642.3(AGL):c.64C>T (p.Leu22Phe)
NM_000642.3(AGL):c.656A>G (p.Asn219Ser) rs893488693
NM_000642.3(AGL):c.662C>T (p.Thr221Ile)
NM_000642.3(AGL):c.681G>C (p.Trp227Cys) rs753914653
NM_000642.3(AGL):c.703G>A (p.Ala235Thr) rs1571242911
NM_000642.3(AGL):c.719A>G (p.Asn240Ser)
NM_000642.3(AGL):c.71G>C (p.Arg24Thr)
NM_000642.3(AGL):c.71G>T (p.Arg24Ile)
NM_000642.3(AGL):c.736C>G (p.Pro246Ala)
NM_000642.3(AGL):c.754A>G (p.Arg252Gly) rs373804474
NM_000642.3(AGL):c.766C>T (p.Arg256Cys) rs757347826
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652
NM_000642.3(AGL):c.775T>C (p.Cys259Arg)
NM_000642.3(AGL):c.782T>G (p.Val261Gly)
NM_000642.3(AGL):c.795A>C (p.Lys265Asn)
NM_000642.3(AGL):c.814C>A (p.Pro272Thr)
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.83G>A (p.Gly28Glu)
NM_000642.3(AGL):c.841A>G (p.Met281Val) rs185838959
NM_000642.3(AGL):c.846+8T>A rs372517543
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648
NM_000642.3(AGL):c.864T>G (p.Ile288Met) rs771965730
NM_000642.3(AGL):c.874A>C (p.Ile292Leu)
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917
NM_000642.3(AGL):c.885G>C (p.Lys295Asn) rs778977370
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986
NM_000642.3(AGL):c.88G>A (p.Glu30Lys)
NM_000642.3(AGL):c.919A>T (p.Asn307Tyr)
NM_000642.3(AGL):c.926C>T (p.Ala309Val)
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) rs1553184646
NM_000642.3(AGL):c.949C>T (p.Leu317Phe) rs1557754822
NM_000642.3(AGL):c.959-72_965dup rs1553185268
NM_000642.3(AGL):c.996C>A (p.His332Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.