ClinVar Miner

List of variants reported as likely benign for ALG6-congenital disorder of glycosylation 1C by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.963T>A (p.Ser321=) rs141511876 0.00024
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_013339.4(ALG6):c.1032T>C (p.His344=) rs146265933 0.00011
NM_013339.4(ALG6):c.420T>C (p.Thr140=) rs150097046 0.00008
NM_013339.4(ALG6):c.915G>A (p.Thr305=) rs112769742 0.00008
NM_013339.4(ALG6):c.96G>A (p.Pro32=) rs149990175 0.00008
NM_013339.4(ALG6):c.257+15C>A rs761827385 0.00007
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu) rs773699560 0.00007
NM_013339.4(ALG6):c.1002A>G (p.Leu334=) rs377647534 0.00006
NM_013339.4(ALG6):c.1128-13T>A rs773823994 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp) rs532466353 0.00006
NM_013339.4(ALG6):c.816+10A>T rs529032571 0.00006
NM_013339.4(ALG6):c.1159C>T (p.Leu387=) rs754054503 0.00005
NM_013339.4(ALG6):c.246A>T (p.Leu82=) rs112029121 0.00005
NM_013339.4(ALG6):c.555C>T (p.Cys185=) rs144065966 0.00005
NM_013339.4(ALG6):c.708T>C (p.Cys236=) rs374672230 0.00005
NM_013339.4(ALG6):c.1362G>A (p.Thr454=) rs767257355 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.258-16A>G rs1289325321 0.00004
NM_013339.4(ALG6):c.357T>G (p.Ala119=) rs776226631 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_013339.4(ALG6):c.988-20C>T rs377453006 0.00004
NM_013339.4(ALG6):c.999G>A (p.Ala333=) rs375487839 0.00004
NM_013339.4(ALG6):c.1059-9C>T rs375216174 0.00003
NM_013339.4(ALG6):c.1308C>T (p.Ser436=) rs1271255207 0.00003
NM_013339.4(ALG6):c.669C>T (p.Leu223=) rs377089305 0.00003
NM_013339.4(ALG6):c.1056A>G (p.Ser352=) rs371100177 0.00002
NM_013339.4(ALG6):c.1200T>C (p.Ala400=) rs780988843 0.00002
NM_013339.4(ALG6):c.1326+20A>G rs1382330745 0.00002
NM_013339.4(ALG6):c.257+11C>G rs774093513 0.00002
NM_013339.4(ALG6):c.495-16C>A rs371088118 0.00002
NM_013339.4(ALG6):c.54A>G (p.Arg18=) rs373800951 0.00002
NM_013339.4(ALG6):c.82+19T>C rs376116153 0.00002
NM_013339.4(ALG6):c.902+19G>A rs1057522483 0.00002
NM_013339.4(ALG6):c.921G>A (p.Leu307=) rs572008178 0.00002
NM_013339.4(ALG6):c.1005A>G (p.Ser335=) rs146094200 0.00001
NM_013339.4(ALG6):c.1029A>G (p.Val343=) rs776279526 0.00001
NM_013339.4(ALG6):c.1059-8G>T rs755900020 0.00001
NM_013339.4(ALG6):c.1092T>C (p.Phe364=) rs751867296 0.00001
NM_013339.4(ALG6):c.1116G>A (p.Val372=) rs774866544 0.00001
NM_013339.4(ALG6):c.1127+12C>A rs539762580 0.00001
NM_013339.4(ALG6):c.1128-11T>C rs760830321 0.00001
NM_013339.4(ALG6):c.1128-18A>T rs1057523181 0.00001
NM_013339.4(ALG6):c.1173T>G (p.Val391=) rs759859422 0.00001
NM_013339.4(ALG6):c.1275G>A (p.Val425=) rs1455501558 0.00001
NM_013339.4(ALG6):c.1320A>G (p.Gln440=) rs137918665 0.00001
NM_013339.4(ALG6):c.1327-16C>T rs1479573763 0.00001
NM_013339.4(ALG6):c.1327-4G>A rs1395718435 0.00001
NM_013339.4(ALG6):c.1353G>C (p.Val451=) rs1346474951 0.00001
NM_013339.4(ALG6):c.1365G>A (p.Leu455=) rs772957444 0.00001
NM_013339.4(ALG6):c.1401G>A (p.Pro467=) rs149524560 0.00001
NM_013339.4(ALG6):c.1422G>A (p.Val474=) rs1644682242 0.00001
NM_013339.4(ALG6):c.1509G>A (p.Gln503=) rs368314781 0.00001
NM_013339.4(ALG6):c.150T>C (p.Asn50=) rs752563803 0.00001
NM_013339.4(ALG6):c.167+8A>G rs902593542 0.00001
NM_013339.4(ALG6):c.168-15T>A rs1213992277 0.00001
NM_013339.4(ALG6):c.208T>C (p.Leu70=) rs748752494 0.00001
NM_013339.4(ALG6):c.213T>C (p.Asp71=) rs1440836116 0.00001
NM_013339.4(ALG6):c.219A>T (p.Pro73=) rs187446493 0.00001
NM_013339.4(ALG6):c.258-15T>C rs1427230309 0.00001
NM_013339.4(ALG6):c.258-4G>C rs376611585 0.00001
NM_013339.4(ALG6):c.294T>C (p.His98=) rs1644480931 0.00001
NM_013339.4(ALG6):c.321A>G (p.Ala107=) rs766050737 0.00001
NM_013339.4(ALG6):c.342A>C (p.Thr114=) rs113591571 0.00001
NM_013339.4(ALG6):c.347-18A>G rs1388308664 0.00001
NM_013339.4(ALG6):c.366G>C (p.Leu122=) rs1368717618 0.00001
NM_013339.4(ALG6):c.429+7T>G rs1179620229 0.00001
NM_013339.4(ALG6):c.430-9T>G rs769256352 0.00001
NM_013339.4(ALG6):c.447C>T (p.Cys149=) rs1251724917 0.00001
NM_013339.4(ALG6):c.480C>T (p.Asp160=) rs1368642972 0.00001
NM_013339.4(ALG6):c.483T>C (p.Tyr161=) rs1275254106 0.00001
NM_013339.4(ALG6):c.494+15T>C rs777671830 0.00001
NM_013339.4(ALG6):c.495-14T>G rs1434021697 0.00001
NM_013339.4(ALG6):c.630T>C (p.Phe210=) rs1231951186 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013339.4(ALG6):c.680+14A>T rs531280238 0.00001
NM_013339.4(ALG6):c.681-8T>G rs754415021 0.00001
NM_013339.4(ALG6):c.693A>G (p.Leu231=) rs777520437 0.00001
NM_013339.4(ALG6):c.735C>T (p.Cys245=) rs1193951173 0.00001
NM_013339.4(ALG6):c.795G>A (p.Pro265=) rs144939122 0.00001
NM_013339.4(ALG6):c.798T>G (p.Val266=) rs1644519075 0.00001
NM_013339.4(ALG6):c.828C>G (p.Ala276=) rs1325407009 0.00001
NM_013339.4(ALG6):c.891A>G (p.Gln297=) rs759310974 0.00001
NM_013339.4(ALG6):c.902+15G>A rs1335275470 0.00001
NM_013339.4(ALG6):c.90T>C (p.Gly30=) rs768726497 0.00001
NM_013339.4(ALG6):c.925C>T (p.Leu309=) rs1311428677 0.00001
NM_013339.4(ALG6):c.1000C>T (p.Leu334=)
NM_013339.4(ALG6):c.1005A>C (p.Ser335=) rs146094200
NM_013339.4(ALG6):c.1005A>T (p.Ser335=)
NM_013339.4(ALG6):c.1011T>C (p.Phe337=) rs2100428006
NM_013339.4(ALG6):c.1041C>G (p.Ser347=)
NM_013339.4(ALG6):c.1047C>T (p.Leu349=) rs2100428058
NM_013339.4(ALG6):c.1048T>C (p.Leu350=)
NM_013339.4(ALG6):c.1058+16T>G
NM_013339.4(ALG6):c.1058+16del
NM_013339.4(ALG6):c.1058+19A>C
NM_013339.4(ALG6):c.1058+7A>G rs2100428084
NM_013339.4(ALG6):c.1059-20T>G
NM_013339.4(ALG6):c.1059-4T>G
NM_013339.4(ALG6):c.1059-7A>C
NM_013339.4(ALG6):c.1059-7A>G rs769414669
NM_013339.4(ALG6):c.1059-8G>A rs755900020
NM_013339.4(ALG6):c.1116G>T (p.Val372=)
NM_013339.4(ALG6):c.1127+11T>C rs1436987592
NM_013339.4(ALG6):c.1127+14A>G
NM_013339.4(ALG6):c.1127+18C>G
NM_013339.4(ALG6):c.1127+20A>G
NM_013339.4(ALG6):c.1127+8A>C rs756307525
NM_013339.4(ALG6):c.1127+8A>G rs756307525
NM_013339.4(ALG6):c.1127+9T>A rs1303052047
NM_013339.4(ALG6):c.1128-15A>C
NM_013339.4(ALG6):c.1128-19T>A
NM_013339.4(ALG6):c.1128-9C>T rs2100440607
NM_013339.4(ALG6):c.1134A>C (p.Leu378=)
NM_013339.4(ALG6):c.1134A>G (p.Leu378=)
NM_013339.4(ALG6):c.1137T>A (p.Pro379=)
NM_013339.4(ALG6):c.1144T>C (p.Leu382=)
NM_013339.4(ALG6):c.1161A>G (p.Leu387=)
NM_013339.4(ALG6):c.1176G>A (p.Val392=) rs751280587
NM_013339.4(ALG6):c.1188A>G (p.Ala396=)
NM_013339.4(ALG6):c.1203T>C (p.Cys401=)
NM_013339.4(ALG6):c.1206A>G (p.Val402=)
NM_013339.4(ALG6):c.1227A>G (p.Glu409=)
NM_013339.4(ALG6):c.123G>A (p.Gln41=)
NM_013339.4(ALG6):c.1242A>G (p.Glu414=)
NM_013339.4(ALG6):c.1254G>A (p.Leu418=) rs2100440829
NM_013339.4(ALG6):c.1257A>G (p.Lys419=)
NM_013339.4(ALG6):c.1260C>A (p.Ser420=)
NM_013339.4(ALG6):c.1260C>T (p.Ser420=)
NM_013339.4(ALG6):c.1266C>A (p.Ser422=) rs748902317
NM_013339.4(ALG6):c.1266C>T (p.Ser422=) rs748902317
NM_013339.4(ALG6):c.1272T>A (p.Ser424=)
NM_013339.4(ALG6):c.1281A>G (p.Lys427=)
NM_013339.4(ALG6):c.1290A>G (p.Pro430=)
NM_013339.4(ALG6):c.1296T>C (p.Phe432=) rs2100440862
NM_013339.4(ALG6):c.129C>T (p.His43=) rs2100404957
NM_013339.4(ALG6):c.1326+10A>G
NM_013339.4(ALG6):c.1326+8C>G rs2100440914
NM_013339.4(ALG6):c.1326+8C>T
NM_013339.4(ALG6):c.1327-12T>C
NM_013339.4(ALG6):c.1327-13T>C
NM_013339.4(ALG6):c.1327-15T>C
NM_013339.4(ALG6):c.1327-16C>A
NM_013339.4(ALG6):c.1327-17C>T
NM_013339.4(ALG6):c.1327-5T>G
NM_013339.4(ALG6):c.1327-8C>T rs1004908693
NM_013339.4(ALG6):c.1344C>T (p.Ile448=)
NM_013339.4(ALG6):c.1347T>C (p.Thr449=) rs1644681761
NM_013339.4(ALG6):c.1359G>A (p.Leu453=) rs2100448162
NM_013339.4(ALG6):c.1363T>C (p.Leu455=) rs2100448173
NM_013339.4(ALG6):c.1371T>C (p.Thr457=)
NM_013339.4(ALG6):c.1386T>C (p.Pro462=) rs1644682042
NM_013339.4(ALG6):c.138A>G (p.Glu46=)
NM_013339.4(ALG6):c.1413T>G (p.Ser471=) rs2100448244
NM_013339.4(ALG6):c.1428T>C (p.Phe476=)
NM_013339.4(ALG6):c.1443C>T (p.Asn481=) rs1057524080
NM_013339.4(ALG6):c.1449G>A (p.Leu483=) rs1644682453
NM_013339.4(ALG6):c.1449G>C (p.Leu483=)
NM_013339.4(ALG6):c.144T>A (p.Thr48=)
NM_013339.4(ALG6):c.1456T>C (p.Leu486=)
NM_013339.4(ALG6):c.1467T>C (p.Phe489=)
NM_013339.4(ALG6):c.1476T>C (p.Ile492=) rs2100448349
NM_013339.4(ALG6):c.1479T>A (p.Ile493=) rs1644682686
NM_013339.4(ALG6):c.1506T>C (p.Asn502=)
NM_013339.4(ALG6):c.1524G>A (p.Ter508=)
NM_013339.4(ALG6):c.15C>T (p.Tyr5=) rs1160519305
NM_013339.4(ALG6):c.167+14A>G
NM_013339.4(ALG6):c.167+15A>G
NM_013339.4(ALG6):c.167+19G>C
NM_013339.4(ALG6):c.167+7del
NM_013339.4(ALG6):c.168-5T>C rs2100412747
NM_013339.4(ALG6):c.168-9C>G rs751572798
NM_013339.4(ALG6):c.16T>C (p.Leu6=) rs1439550994
NM_013339.4(ALG6):c.171T>C (p.Tyr57=)
NM_013339.4(ALG6):c.192T>C (p.Asn64=) rs1644468589
NM_013339.4(ALG6):c.201T>C (p.Tyr67=) rs2100412804
NM_013339.4(ALG6):c.234T>C (p.Tyr78=)
NM_013339.4(ALG6):c.246A>C (p.Leu82=) rs112029121
NM_013339.4(ALG6):c.246A>G (p.Leu82=)
NM_013339.4(ALG6):c.24A>C (p.Thr8=) rs2100378424
NM_013339.4(ALG6):c.257+14del
NM_013339.4(ALG6):c.257+17T>C
NM_013339.4(ALG6):c.257+19A>T
NM_013339.4(ALG6):c.258-13C>G
NM_013339.4(ALG6):c.258-14G>A rs1644480698
NM_013339.4(ALG6):c.258-15T>A rs1427230309
NM_013339.4(ALG6):c.258-18A>C
NM_013339.4(ALG6):c.258-18A>G
NM_013339.4(ALG6):c.258-19T>C
NM_013339.4(ALG6):c.258-4G>T rs376611585
NM_013339.4(ALG6):c.258-8A>G rs1570063031
NM_013339.4(ALG6):c.258-9G>T
NM_013339.4(ALG6):c.279C>T (p.Asp93=) rs2100415406
NM_013339.4(ALG6):c.27A>C (p.Val9=)
NM_013339.4(ALG6):c.288T>C (p.Ala96=)
NM_013339.4(ALG6):c.291C>T (p.Leu97=) rs1232614059
NM_013339.4(ALG6):c.297A>G (p.Thr99=) rs2100415439
NM_013339.4(ALG6):c.303T>A (p.Arg101=)
NM_013339.4(ALG6):c.318G>A (p.Gln106=) rs1316712862
NM_013339.4(ALG6):c.327G>A (p.Lys109=) rs1389168920
NM_013339.4(ALG6):c.346+11A>G
NM_013339.4(ALG6):c.346+12A>G
NM_013339.4(ALG6):c.346+13T>C
NM_013339.4(ALG6):c.346+15G>T
NM_013339.4(ALG6):c.346+16G>A rs76013640
NM_013339.4(ALG6):c.346+16G>T rs76013640
NM_013339.4(ALG6):c.346+20T>C
NM_013339.4(ALG6):c.346+8A>G
NM_013339.4(ALG6):c.347-14A>C
NM_013339.4(ALG6):c.347-17T>C
NM_013339.4(ALG6):c.420T>A (p.Thr140=) rs150097046
NM_013339.4(ALG6):c.429+9T>C
NM_013339.4(ALG6):c.430-10G>C
NM_013339.4(ALG6):c.430-18C>T
NM_013339.4(ALG6):c.430-19A>G
NM_013339.4(ALG6):c.435T>A (p.Ala145=)
NM_013339.4(ALG6):c.442T>C (p.Leu148=)
NM_013339.4(ALG6):c.448A>G (p.Ile150Val) rs571644669
NM_013339.4(ALG6):c.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.454C>T (p.Leu152=)
NM_013339.4(ALG6):c.456G>A (p.Leu152=) rs751956471
NM_013339.4(ALG6):c.459T>C (p.Tyr153=) rs887812609
NM_013339.4(ALG6):c.474T>C (p.Leu158=) rs2100417592
NM_013339.4(ALG6):c.489T>C (p.His163=) rs2100417628
NM_013339.4(ALG6):c.495-10A>C
NM_013339.4(ALG6):c.495-6G>A
NM_013339.4(ALG6):c.495-8A>G rs2100420744
NM_013339.4(ALG6):c.504T>C (p.Ser168=)
NM_013339.4(ALG6):c.507G>A (p.Val169=)
NM_013339.4(ALG6):c.510T>C (p.Ser170=)
NM_013339.4(ALG6):c.51A>C (p.Val17=) rs2100378459
NM_013339.4(ALG6):c.531T>A (p.Gly177=) rs1644513973
NM_013339.4(ALG6):c.546T>C (p.Ser182=) rs762983061
NM_013339.4(ALG6):c.546T>G (p.Ser182=)
NM_013339.4(ALG6):c.552C>T (p.Asp184=)
NM_013339.4(ALG6):c.561C>T (p.Leu187=) rs2100420841
NM_013339.4(ALG6):c.562C>T (p.Leu188=)
NM_013339.4(ALG6):c.564A>G (p.Leu188=) rs755149107
NM_013339.4(ALG6):c.576A>G (p.Ala192=) rs1421405856
NM_013339.4(ALG6):c.597T>C (p.Tyr199=) rs2100420873
NM_013339.4(ALG6):c.600A>G (p.Lys200=)
NM_013339.4(ALG6):c.60A>G (p.Thr20=)
NM_013339.4(ALG6):c.621C>A (p.Ala207=) rs2100420899
NM_013339.4(ALG6):c.622T>C (p.Leu208=)
NM_013339.4(ALG6):c.636C>T (p.Cys212=)
NM_013339.4(ALG6):c.63G>A (p.Val21=)
NM_013339.4(ALG6):c.63G>T (p.Val21=) rs1647908648
NM_013339.4(ALG6):c.651G>A (p.Lys217=)
NM_013339.4(ALG6):c.660A>G (p.Lys220=) rs2100420972
NM_013339.4(ALG6):c.680+10T>C
NM_013339.4(ALG6):c.680+11T>G
NM_013339.4(ALG6):c.680+12T>C rs777324596
NM_013339.4(ALG6):c.680+19C>T
NM_013339.4(ALG6):c.680+8del
NM_013339.4(ALG6):c.681-16T>G
NM_013339.4(ALG6):c.681-17C>A
NM_013339.4(ALG6):c.681-17C>G
NM_013339.4(ALG6):c.681-19A>C
NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT
NM_013339.4(ALG6):c.699G>A (p.Lys233=)
NM_013339.4(ALG6):c.720T>G (p.Ala240=) rs2100421596
NM_013339.4(ALG6):c.723C>G (p.Ser241=)
NM_013339.4(ALG6):c.732C>T (p.Leu244=) rs528739746
NM_013339.4(ALG6):c.741G>T (p.Leu247=) rs1644518821
NM_013339.4(ALG6):c.750T>C (p.Phe250=) rs2100421671
NM_013339.4(ALG6):c.762A>G (p.Glu254=) rs1392863186
NM_013339.4(ALG6):c.769C>T (p.Leu257=)
NM_013339.4(ALG6):c.771G>A (p.Leu257=) rs2100421694
NM_013339.4(ALG6):c.774G>A (p.Gln258=)
NM_013339.4(ALG6):c.780A>G (p.Leu260=)
NM_013339.4(ALG6):c.798T>C (p.Val266=)
NM_013339.4(ALG6):c.804T>C (p.Arg268=) rs1644519126
NM_013339.4(ALG6):c.816+11del
NM_013339.4(ALG6):c.816+12C>A
NM_013339.4(ALG6):c.816+14C>A
NM_013339.4(ALG6):c.816+16T>C
NM_013339.4(ALG6):c.816+18C>A rs2100421763
NM_013339.4(ALG6):c.816+19C>T
NM_013339.4(ALG6):c.816+8T>A
NM_013339.4(ALG6):c.817-8C>G
NM_013339.4(ALG6):c.82+12T>G
NM_013339.4(ALG6):c.82+13T>A
NM_013339.4(ALG6):c.82+17G>C
NM_013339.4(ALG6):c.82+18G>A
NM_013339.4(ALG6):c.82+7C>T rs2100378518
NM_013339.4(ALG6):c.82+8A>G
NM_013339.4(ALG6):c.82+9T>G
NM_013339.4(ALG6):c.83-20C>A
NM_013339.4(ALG6):c.83-8G>T
NM_013339.4(ALG6):c.83-9T>G
NM_013339.4(ALG6):c.852C>G (p.Val284=) rs912739738
NM_013339.4(ALG6):c.864T>A (p.Ile288=)
NM_013339.4(ALG6):c.867G>A (p.Lys289=)
NM_013339.4(ALG6):c.879A>G (p.Pro293=) rs2100423371
NM_013339.4(ALG6):c.87T>C (p.Ala29=) rs2100404896
NM_013339.4(ALG6):c.885C>T (p.His295=) rs1271043295
NM_013339.4(ALG6):c.888C>T (p.Ile296=) rs2100423389
NM_013339.4(ALG6):c.892T>C (p.Leu298=)
NM_013339.4(ALG6):c.902+11_902+14del rs2100423419
NM_013339.4(ALG6):c.902+12A>T
NM_013339.4(ALG6):c.902+13A>G
NM_013339.4(ALG6):c.902+7G>T rs372337207
NM_013339.4(ALG6):c.903-11T>G
NM_013339.4(ALG6):c.903-16T>C
NM_013339.4(ALG6):c.903-20G>T rs756370228
NM_013339.4(ALG6):c.903-4T>C rs2100425042
NM_013339.4(ALG6):c.903-7T>C
NM_013339.4(ALG6):c.903-8T>C
NM_013339.4(ALG6):c.915G>C (p.Thr305=) rs112769742
NM_013339.4(ALG6):c.915G>T (p.Thr305=) rs112769742
NM_013339.4(ALG6):c.919T>C (p.Leu307=)
NM_013339.4(ALG6):c.927G>C (p.Leu309=) rs2100425098
NM_013339.4(ALG6):c.946T>C (p.Leu316=) rs2100425118
NM_013339.4(ALG6):c.960C>T (p.Pro320=)
NM_013339.4(ALG6):c.984A>C (p.Thr328=)
NM_013339.4(ALG6):c.984A>G (p.Thr328=)
NM_013339.4(ALG6):c.985C>T (p.Leu329=) rs1422218414
NM_013339.4(ALG6):c.987+11C>A rs1557592881
NM_013339.4(ALG6):c.987+14T>C
NM_013339.4(ALG6):c.988-13T>G
NM_013339.4(ALG6):c.988-14C>T
NM_013339.4(ALG6):c.988-14_988-13del
NM_013339.4(ALG6):c.988-15C>A
NM_013339.4(ALG6):c.988-16C>A
NM_013339.4(ALG6):c.988-16C>T
NM_013339.4(ALG6):c.988-18C>T
NM_013339.4(ALG6):c.988-5T>C
NM_013339.4(ALG6):c.988-7C>A
NM_013339.4(ALG6):c.988-7dup
NM_013339.4(ALG6):c.988-8T>C rs1644561783
NM_013339.4(ALG6):c.999G>C (p.Ala333=)
NM_013339.4(ALG6):c.999G>T (p.Ala333=)
NM_013339.4(ALG6):c.9A>G (p.Lys3=) rs2100378404

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