ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 364
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HGVS dbSNP
NC_000001.10:g.(?_20978852)_(20987914_?)del
NC_000009.11:g.(?_130216797)_(130953151_?)dup
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000013.10:g.(?_52538988)_(52602746_?)dup
NC_000020.10:g.(?_49557382)_(49558683_?)del
NC_000022.10:g.(?_50297466)_(50301612_?)del
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.341_343AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.523+3A>G rs774107741
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val)
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser)
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg)
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp)
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe)
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys)
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe) rs1569519563
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg) rs1556509706
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His) rs1441099792
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys)
NM_001099922.3(ALG13):c.2529+5T>C rs749420976
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe) rs1556516959
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe)
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup)
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val) rs1556517111
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[17] (p.Pro944_Pro945dup)
NM_001099922.3(ALG13):c.2754_2756ACC[18] (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)
NM_001099922.3(ALG13):c.2797_2799CCT[10] (p.Pro943_Pro945del)
NM_001099922.3(ALG13):c.2797_2799CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797_2799CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg) rs753692221
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp)
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser)
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) rs761412613
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala)
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg)
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu)
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) rs1060500008
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser)
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu)
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu)
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys)
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)
NM_001382.4(DPAGT1):c.1005+6A>T
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649
NM_001382.4(DPAGT1):c.161+6C>T rs762402071
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val) rs398123609
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
NM_001382.4(DPAGT1):c.918-10C>A
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311
NM_002435.2(MPI):c.1054del (p.Val352Serfs) rs752976348
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1053+6_1053+9del rs1279545559
NM_002435.3(MPI):c.1054-34_1054-11del rs1555479532
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro) rs1555479551
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys)
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588
NM_002435.3(MPI):c.121G>A (p.Ala41Thr) rs779821212
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter) rs1555479632
NM_002435.3(MPI):c.45G>C (p.Gln15His)
NM_002435.3(MPI):c.61A>G (p.Met21Val)
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002633.3(PGM1):c.*231C>T rs886046483
NM_002633.3(PGM1):c.*236T>C rs534628770
NM_002633.3(PGM1):c.*348G>A rs58522038
NM_002633.3(PGM1):c.*357A>G rs886046484
NM_002633.3(PGM1):c.*72A>G rs761043925
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1028+11C>A rs541069522
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988
NM_002633.3(PGM1):c.1144+10A>G rs886046482
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) rs886046480
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) rs200237046
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808
NM_003859.2(DPM1):c.109C>A (p.Arg37Ser) rs369939483
NM_003859.2(DPM1):c.112G>A (p.Glu38Lys)
NM_003859.2(DPM1):c.168C>G (p.Ile56Met)
NM_003859.2(DPM1):c.173A>G (p.Tyr58Cys)
NM_003859.2(DPM1):c.173A>T (p.Tyr58Phe)
NM_003859.2(DPM1):c.19A>G (p.Ser7Gly)
NM_003859.2(DPM1):c.1A>C (p.Met1Leu)
NM_003859.2(DPM1):c.20G>A (p.Ser7Asn) rs776145598
NM_003859.2(DPM1):c.235G>C (p.Glu79Gln) rs760351795
NM_003859.2(DPM1):c.254A>G (p.Asp85Gly) rs1364834319
NM_003859.2(DPM1):c.25A>G (p.Ser9Gly)
NM_003859.2(DPM1):c.261T>A (p.Ile87=) rs774440510
NM_003859.2(DPM1):c.275G>A (p.Arg92Gln) rs1324570980
NM_003859.2(DPM1):c.385C>A (p.Pro129Thr)
NM_003859.2(DPM1):c.385C>T (p.Pro129Ser)
NM_003859.2(DPM1):c.413G>A (p.Gly138Asp)
NM_003859.2(DPM1):c.52G>C (p.Glu18Gln)
NM_003859.2(DPM1):c.579A>C (p.Glu193Asp)
NM_003859.2(DPM1):c.59G>T (p.Arg20Leu) rs376257244
NM_003859.2(DPM1):c.61A>G (p.Ser21Gly)
NM_003859.2(DPM1):c.685A>G (p.Ile229Val)
NM_003859.2(DPM1):c.757T>G (p.Leu253Val) rs773403940
NM_003859.2(DPM1):c.763A>G (p.Thr255Ala)
NM_003859.2(DPM1):c.779C>T (p.Thr260Ile) rs146262101
NM_003863.3(DPM2):c.107G>A (p.Ser36Asn)
NM_003863.3(DPM2):c.145T>A (p.Tyr49Asn) rs755055369
NM_003863.3(DPM2):c.146A>G (p.Tyr49Cys)
NM_003863.3(DPM2):c.154G>A (p.Ala52Thr) rs147263320
NM_003863.3(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.3(DPM2):c.208T>G (p.Ser70Ala) rs759597928
NM_003863.3(DPM2):c.212_213delinsGC (p.Tyr71Cys)
NM_003863.3(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys)
NM_004870.4(MPDU1):c.477del (p.Ser160fs) rs765585873
NM_004870.4(MPDU1):c.619-2A>G rs368123972
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys)
NM_005216.4(DDOST):c.647C>T (p.Thr216Met)
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_005787.6(ALG3):c.240C>T (p.Gly80=)
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys) rs528154210
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser) rs150976885
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer) rs1553156893
NM_013339.4(ALG6):c.1237_1239GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.1364_1366TGA[1] (p.Met456del) rs1553157427
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs) rs1553157429
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del) rs1553157450
NM_013339.4(ALG6):c.1473_1475TAT[4] (p.Ile493dup) rs1475726598
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698
NM_013339.4(ALG6):c.189_191del (p.Asn64del) rs1553155267
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1]) rs1553155569
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)
NM_013339.4(ALG6):c.781_783AGA[1] (p.Arg262del) rs886548508
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724
NM_014908.3(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.3(DOLK):c.1067G>A (p.Arg356Gln) rs199535796
NM_014908.3(DOLK):c.1087G>A (p.Ala363Thr)
NM_014908.3(DOLK):c.1114T>A (p.Phe372Ile) rs146395561
NM_014908.3(DOLK):c.1129C>T (p.Arg377Cys)
NM_014908.3(DOLK):c.1139G>A (p.Arg380His) rs553112177
NM_014908.3(DOLK):c.1165C>T (p.Arg389Trp)
NM_014908.3(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.3(DOLK):c.1257C>G (p.Ile419Met)
NM_014908.3(DOLK):c.1262T>C (p.Leu421Pro)
NM_014908.3(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829
NM_014908.3(DOLK):c.1324G>A (p.Ala442Thr) rs143641133
NM_014908.3(DOLK):c.1333C>A (p.Leu445Met) rs866088033
NM_014908.3(DOLK):c.1357G>C (p.Val453Leu)
NM_014908.3(DOLK):c.1373G>T (p.Gly458Val)
NM_014908.3(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.3(DOLK):c.1394G>A (p.Arg465His) rs148930043
NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) rs144209926
NM_014908.3(DOLK):c.1462G>T (p.Ala488Ser)
NM_014908.3(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.3(DOLK):c.1558A>G (p.Thr520Ala)
NM_014908.3(DOLK):c.164A>G (p.Tyr55Cys)
NM_014908.3(DOLK):c.194A>G (p.Gln65Arg) rs754744977
NM_014908.3(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.3(DOLK):c.288G>C (p.Lys96Asn)
NM_014908.3(DOLK):c.292C>T (p.Arg98Trp)
NM_014908.3(DOLK):c.313C>A (p.Pro105Thr)
NM_014908.3(DOLK):c.344C>T (p.Ala115Val) rs146804211
NM_014908.3(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.3(DOLK):c.379G>A (p.Val127Met)
NM_014908.3(DOLK):c.401G>A (p.Arg134His)
NM_014908.3(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.3(DOLK):c.412A>G (p.Thr138Ala)
NM_014908.3(DOLK):c.429C>G (p.Ile143Met) rs1261719011
NM_014908.3(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.3(DOLK):c.560G>T (p.Arg187Leu) rs377658203
NM_014908.3(DOLK):c.572C>A (p.Pro191His) rs767965852
NM_014908.3(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.3(DOLK):c.700A>G (p.Met234Val) rs139787271
NM_014908.3(DOLK):c.703G>A (p.Val235Ile) rs759019995
NM_014908.3(DOLK):c.725G>A (p.Ser242Asn) rs876657786
NM_014908.3(DOLK):c.767C>T (p.Ser256Phe) rs1186154711
NM_014908.3(DOLK):c.860_862TTC[1] (p.Leu288del) rs773789842
NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) rs371529625
NM_014908.3(DOLK):c.914C>G (p.Ser305Cys)
NM_014908.3(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_019109.4(ALG1):c.1136T>G (p.Val379Gly) rs1555452573
NM_019109.4(ALG1):c.142C>T (p.Arg48Cys) rs1051082443
NM_019109.4(ALG1):c.604G>T (p.Asp202Tyr)
NM_019109.4(ALG1):c.766G>A (p.Glu256Lys)
NM_019109.4(ALG1):c.827G>A (p.Arg276Gln) rs201975029
NM_019109.4(ALG1):c.880A>C (p.Ile294Leu)
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met)
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835
NM_024105.4(ALG12):c.434C>T (p.Thr145Met)
NM_024105.4(ALG12):c.469+4C>T
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter) rs1464756874
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365
NM_024105.4(ALG12):c.652A>G (p.Ile218Val)
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540
NM_024105.4(ALG12):c.809G>A (p.Arg270His)
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser)
NM_024105.4(ALG12):c.863C>T (p.Thr288Met)
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu)
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204
NM_024740.2(ALG9):c.896-3C>T rs782063335
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys) rs1329170357
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr) rs138258236
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)
NM_033087.4(ALG2):c.1A>G (p.Met1Val) rs750172644
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)
NM_033087.4(ALG2):c.216G>T (p.Gly72=) rs531748488
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu) rs755705607
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro) rs1564222174
NM_033087.4(ALG2):c.251_253GCG[3] (p.Gly85dup)
NM_033087.4(ALG2):c.257_259CCG[3] (p.Ala87dup)
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)
NM_033087.4(ALG2):c.348+6G>A rs368075764
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)
NM_033087.4(ALG2):c.399C>G (p.Ile133Met) rs371772900
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly) rs369670496
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln) rs757920586
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr) rs140382423
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro) rs1279623882
NM_033087.4(ALG2):c.97G>A (p.Val33Met)
NM_052859.4(RFT1):c.1102+1G>T rs1559586345
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr)
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys)
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) rs1562183021
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) rs1554202852
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) rs773427971
NM_153741.2(DPM3):c.185C>T (p.Ala62Val) rs1553190791
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
NM_153741.2(DPM3):c.55G>T (p.Val19Leu) rs141877691
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)
NM_178862.3(STT3B):c.619A>G (p.Ile207Val) rs780102016
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)
NM_201400.4(EEF2KMT):c.*804G>A rs1047747

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