ClinVar Miner

List of variants reported as likely benign for Congenital disorder of deglycosylation by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.1579A>G (p.Ile527Val) rs112237307 0.00160
NM_018297.4(NGLY1):c.1508G>A (p.Arg503His) rs139134926 0.00150
NM_018297.4(NGLY1):c.1608C>A (p.His536Gln) rs138108375 0.00066
NM_018297.4(NGLY1):c.636G>T (p.Ser212=) rs201479575 0.00053
NM_018297.4(NGLY1):c.334A>C (p.Arg112=) rs150281491 0.00046
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=) rs138477428 0.00036
NM_018297.4(NGLY1):c.390C>G (p.Ala130=) rs140924312 0.00025
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) rs370175393 0.00024
NM_018297.4(NGLY1):c.663C>T (p.Ile221=) rs373934325 0.00014
NM_018297.4(NGLY1):c.1333A>C (p.Ile445Leu) rs144144643 0.00013
NM_018297.4(NGLY1):c.414A>G (p.Pro138=) rs145234847 0.00011
NM_018297.4(NGLY1):c.492+4A>T rs181461044 0.00008
NM_018297.4(NGLY1):c.609A>G (p.Leu203=) rs146227168 0.00008
NM_018297.4(NGLY1):c.1611+17A>C rs370336045 0.00006
NM_018297.4(NGLY1):c.247-13T>G rs201976588 0.00006
NM_018297.4(NGLY1):c.882-18T>C rs550320343 0.00006
NM_018297.4(NGLY1):c.582G>A (p.Ala194=) rs373961978 0.00005
NM_018297.4(NGLY1):c.667A>G (p.Ile223Val) rs201904265 0.00005
NM_018297.4(NGLY1):c.1050G>A (p.Leu350=) rs140277729 0.00004
NM_018297.4(NGLY1):c.1185T>C (p.His395=) rs370848304 0.00004
NM_018297.4(NGLY1):c.132-8T>C rs750383442 0.00004
NM_018297.4(NGLY1):c.1426-13C>T rs767706125 0.00004
NM_018297.4(NGLY1):c.246+15G>A rs186233424 0.00004
NM_018297.4(NGLY1):c.468A>G (p.Ser156=) rs776423647 0.00004
NM_018297.4(NGLY1):c.492+7T>C rs781577774 0.00004
NM_018297.4(NGLY1):c.642T>C (p.Ala214=) rs781344542 0.00004
NM_018297.4(NGLY1):c.658+20A>T rs765443929 0.00004
NM_018297.4(NGLY1):c.741C>T (p.Asn247=) rs368580768 0.00004
NM_018297.4(NGLY1):c.1260+14A>G rs763046926 0.00003
NM_018297.4(NGLY1):c.131+11A>G rs377289212 0.00003
NM_018297.4(NGLY1):c.132-15T>G rs780031584 0.00003
NM_018297.4(NGLY1):c.1789+8T>C rs759588336 0.00003
NM_018297.4(NGLY1):c.1790-7C>G rs778776817 0.00003
NM_018297.4(NGLY1):c.597G>A (p.Pro199=) rs369840629 0.00003
NM_018297.4(NGLY1):c.1470T>G (p.Ser490=) rs760580010 0.00002
NM_018297.4(NGLY1):c.1790-12T>C rs759806105 0.00002
NM_018297.4(NGLY1):c.1790-18T>A rs532188961 0.00002
NM_018297.4(NGLY1):c.465G>A (p.Gln155=) rs537713428 0.00002
NM_018297.4(NGLY1):c.591T>C (p.Cys197=) rs371185733 0.00002
NM_018297.4(NGLY1):c.1004-5A>G rs775894052 0.00001
NM_018297.4(NGLY1):c.1150-6T>C rs1291823983 0.00001
NM_018297.4(NGLY1):c.1161C>A (p.Val387=) rs1705687980 0.00001
NM_018297.4(NGLY1):c.1164T>C (p.Thr388=) rs373641035 0.00001
NM_018297.4(NGLY1):c.1257G>A (p.Lys419=) rs1575616373 0.00001
NM_018297.4(NGLY1):c.126C>T (p.Ile42=) rs565048300 0.00001
NM_018297.4(NGLY1):c.1305G>A (p.Gln435=) rs767739104 0.00001
NM_018297.4(NGLY1):c.131+12C>T rs368524040 0.00001
NM_018297.4(NGLY1):c.1353A>G (p.Lys451=) rs748956391 0.00001
NM_018297.4(NGLY1):c.1383G>A (p.Gly461=) rs938966609 0.00001
NM_018297.4(NGLY1):c.1425+20A>G rs773050159 0.00001
NM_018297.4(NGLY1):c.1426-20A>G rs752766144 0.00001
NM_018297.4(NGLY1):c.1437C>T (p.Thr479=) rs752135335 0.00001
NM_018297.4(NGLY1):c.154A>C (p.Arg52=) rs767764236 0.00001
NM_018297.4(NGLY1):c.159C>T (p.Ser53=) rs759653343 0.00001
NM_018297.4(NGLY1):c.1612-4A>G rs376954734 0.00001
NM_018297.4(NGLY1):c.1614A>G (p.Val538=) rs1485372453 0.00001
NM_018297.4(NGLY1):c.16T>C (p.Leu6=) rs1481308931 0.00001
NM_018297.4(NGLY1):c.1740A>G (p.Thr580=) rs554503189 0.00001
NM_018297.4(NGLY1):c.1743A>G (p.Val581=) rs766286658 0.00001
NM_018297.4(NGLY1):c.1789+14T>G rs774500712 0.00001
NM_018297.4(NGLY1):c.1933T>C (p.Leu645=) rs1704866696 0.00001
NM_018297.4(NGLY1):c.198G>A (p.Leu66=) rs768484670 0.00001
NM_018297.4(NGLY1):c.246+17A>T rs1395079531 0.00001
NM_018297.4(NGLY1):c.247-18T>A rs185704729 0.00001
NM_018297.4(NGLY1):c.27C>G (p.Ser9=) rs777336195 0.00001
NM_018297.4(NGLY1):c.384T>G (p.Pro128=) rs944211173 0.00001
NM_018297.4(NGLY1):c.405T>C (p.Pro135=) rs565015455 0.00001
NM_018297.4(NGLY1):c.411A>G (p.Thr137=) rs772280206 0.00001
NM_018297.4(NGLY1):c.480A>G (p.Pro160=) rs1030850752 0.00001
NM_018297.4(NGLY1):c.48C>T (p.Ala16=) rs751579974 0.00001
NM_018297.4(NGLY1):c.493-19T>G rs1706736959 0.00001
NM_018297.4(NGLY1):c.493-9T>C rs763962126 0.00001
NM_018297.4(NGLY1):c.519A>G (p.Glu173=) rs1197877731 0.00001
NM_018297.4(NGLY1):c.57G>A (p.Glu19=) rs146946624 0.00001
NM_018297.4(NGLY1):c.603A>G (p.Gln201=) rs1444650804 0.00001
NM_018297.4(NGLY1):c.648A>G (p.Lys216=) rs563065066 0.00001
NM_018297.4(NGLY1):c.750C>T (p.Cys250=) rs774509442 0.00001
NM_018297.4(NGLY1):c.783T>C (p.Asp261=) rs147024365 0.00001
NM_018297.4(NGLY1):c.789A>G (p.Ser263=) rs1706026953 0.00001
NM_018297.4(NGLY1):c.801T>C (p.Ser267=) rs199578758 0.00001
NM_018297.4(NGLY1):c.834G>A (p.Val278=) rs1437417087 0.00001
NM_018297.4(NGLY1):c.837A>G (p.Glu279=) rs920352938 0.00001
NM_018297.4(NGLY1):c.894T>A (p.Pro298=) rs1385420166 0.00001
NM_018297.4(NGLY1):c.904T>C (p.Leu302=) rs1157809772 0.00001
NM_018297.4(NGLY1):c.951A>G (p.Thr317=) rs1705887835 0.00001
NM_018297.4(NGLY1):c.954G>C (p.Leu318=) rs938879273 0.00001
NM_018297.4(NGLY1):c.960C>T (p.Cys320=) rs781518537 0.00001
NM_018297.4(NGLY1):c.972G>A (p.Gly324=) rs1057521904 0.00001
NM_018297.4(NGLY1):c.1003+13G>A
NM_018297.4(NGLY1):c.1003+13G>C
NM_018297.4(NGLY1):c.1003+17G>A
NM_018297.4(NGLY1):c.1003+20C>A rs963755537
NM_018297.4(NGLY1):c.1003+20C>T
NM_018297.4(NGLY1):c.1003+7A>G
NM_018297.4(NGLY1):c.1003+8A>C rs2125478759
NM_018297.4(NGLY1):c.1004-11T>C
NM_018297.4(NGLY1):c.1004-15C>T rs2125475882
NM_018297.4(NGLY1):c.1008T>C (p.His336=) rs772272234
NM_018297.4(NGLY1):c.1026T>C (p.Tyr342=)
NM_018297.4(NGLY1):c.1038G>A (p.Gln346=) rs2125475740
NM_018297.4(NGLY1):c.1044G>C (p.Arg348=)
NM_018297.4(NGLY1):c.1062A>T (p.Ala354=)
NM_018297.4(NGLY1):c.1068A>G (p.Glu356=) rs1705803708
NM_018297.4(NGLY1):c.1074C>T (p.Val358=)
NM_018297.4(NGLY1):c.1086A>G (p.Pro362=)
NM_018297.4(NGLY1):c.108C>T (p.Leu36=) rs2125331364
NM_018297.4(NGLY1):c.1110C>A (p.Gly370=)
NM_018297.4(NGLY1):c.1122C>T (p.Ser374=) rs1705798915
NM_018297.4(NGLY1):c.1131A>C (p.Ile377=)
NM_018297.4(NGLY1):c.1134A>G (p.Ala378=)
NM_018297.4(NGLY1):c.1149+10A>T
NM_018297.4(NGLY1):c.1149+19A>T
NM_018297.4(NGLY1):c.1149+7C>G
NM_018297.4(NGLY1):c.1149+8A>G rs2125475375
NM_018297.4(NGLY1):c.1150-7G>A
NM_018297.4(NGLY1):c.1150-7_1150-4del rs1705688823
NM_018297.4(NGLY1):c.1150-8T>C
NM_018297.4(NGLY1):c.1161C>T (p.Val387=) rs1705687980
NM_018297.4(NGLY1):c.1168C>A (p.Arg390=) rs751805500
NM_018297.4(NGLY1):c.1176C>G (p.Ser392=)
NM_018297.4(NGLY1):c.1179C>T (p.Cys393=)
NM_018297.4(NGLY1):c.1188A>G (p.Glu396=)
NM_018297.4(NGLY1):c.1191G>A (p.Glu397=)
NM_018297.4(NGLY1):c.1194G>C (p.Val398=)
NM_018297.4(NGLY1):c.1203A>G (p.Arg401=)
NM_018297.4(NGLY1):c.1212G>A (p.Lys404=)
NM_018297.4(NGLY1):c.1218A>G (p.Lys406=)
NM_018297.4(NGLY1):c.1224A>G (p.Ala408=)
NM_018297.4(NGLY1):c.1227A>G (p.Leu409=)
NM_018297.4(NGLY1):c.1248G>A (p.Gly416=)
NM_018297.4(NGLY1):c.1248G>C (p.Gly416=)
NM_018297.4(NGLY1):c.1260+10G>A
NM_018297.4(NGLY1):c.1260+12C>G
NM_018297.4(NGLY1):c.1260+14_1260+17del rs778136830
NM_018297.4(NGLY1):c.1260+15T>C
NM_018297.4(NGLY1):c.1260+16C>G
NM_018297.4(NGLY1):c.1260+16C>T
NM_018297.4(NGLY1):c.1260+17T>C rs1559533894
NM_018297.4(NGLY1):c.1260+20T>C
NM_018297.4(NGLY1):c.1260+7T>C rs6550987
NM_018297.4(NGLY1):c.1261-11A>C
NM_018297.4(NGLY1):c.1261-12C>T
NM_018297.4(NGLY1):c.1261-13A>C
NM_018297.4(NGLY1):c.1261-15A>C
NM_018297.4(NGLY1):c.1261-15A>T
NM_018297.4(NGLY1):c.1261-19T>A
NM_018297.4(NGLY1):c.1263G>A (p.Arg421=)
NM_018297.4(NGLY1):c.1266A>G (p.Gln422=)
NM_018297.4(NGLY1):c.1272T>C (p.Phe424=) rs2125466297
NM_018297.4(NGLY1):c.1293A>G (p.Lys431=)
NM_018297.4(NGLY1):c.12G>A (p.Ala4=) rs1462227827
NM_018297.4(NGLY1):c.12G>C (p.Ala4=)
NM_018297.4(NGLY1):c.1302C>T (p.Leu434=) rs1183019367
NM_018297.4(NGLY1):c.131+10A>G rs2125331280
NM_018297.4(NGLY1):c.131+13G>C
NM_018297.4(NGLY1):c.131+15G>T
NM_018297.4(NGLY1):c.131+18C>G
NM_018297.4(NGLY1):c.131+8G>A
NM_018297.4(NGLY1):c.132-11T>C rs2125321905
NM_018297.4(NGLY1):c.132-19A>C
NM_018297.4(NGLY1):c.1347C>T (p.Thr449=)
NM_018297.4(NGLY1):c.1419T>G (p.Gly473=)
NM_018297.4(NGLY1):c.141T>C (p.Asn47=)
NM_018297.4(NGLY1):c.1422A>G (p.Leu474=)
NM_018297.4(NGLY1):c.1425+15C>T
NM_018297.4(NGLY1):c.1426-14G>A
NM_018297.4(NGLY1):c.1426-6T>C
NM_018297.4(NGLY1):c.1426-8T>G
NM_018297.4(NGLY1):c.1470T>C (p.Ser490=)
NM_018297.4(NGLY1):c.1482C>T (p.His494=) rs1006571126
NM_018297.4(NGLY1):c.1485T>C (p.Leu495=)
NM_018297.4(NGLY1):c.1488T>C (p.Cys496=)
NM_018297.4(NGLY1):c.1491C>T (p.Tyr497=)
NM_018297.4(NGLY1):c.1503A>G (p.Lys501=)
NM_018297.4(NGLY1):c.1512T>C (p.Tyr504=)
NM_018297.4(NGLY1):c.1539C>T (p.Thr513=)
NM_018297.4(NGLY1):c.153T>C (p.Tyr51=)
NM_018297.4(NGLY1):c.1560C>A (p.Gly520=)
NM_018297.4(NGLY1):c.1563G>A (p.Val521=)
NM_018297.4(NGLY1):c.1563G>T (p.Val521=) rs375604564
NM_018297.4(NGLY1):c.156A>G (p.Arg52=) rs2125321816
NM_018297.4(NGLY1):c.15A>G (p.Ala5=)
NM_018297.4(NGLY1):c.15A>T (p.Ala5=)
NM_018297.4(NGLY1):c.1611+11G>A rs2125459434
NM_018297.4(NGLY1):c.1611+12C>G
NM_018297.4(NGLY1):c.1611+13A>G
NM_018297.4(NGLY1):c.1611+14T>C
NM_018297.4(NGLY1):c.1611+9A>C
NM_018297.4(NGLY1):c.1612-10C>T rs1704914538
NM_018297.4(NGLY1):c.1612-12T>C
NM_018297.4(NGLY1):c.1612-15C>G
NM_018297.4(NGLY1):c.1612-16T>A
NM_018297.4(NGLY1):c.1612-18C>T
NM_018297.4(NGLY1):c.162C>T (p.Ile54=)
NM_018297.4(NGLY1):c.1635A>T (p.Gly545=) rs1215937995
NM_018297.4(NGLY1):c.165G>T (p.Arg55=) rs2125321778
NM_018297.4(NGLY1):c.1662G>A (p.Lys554=)
NM_018297.4(NGLY1):c.1668G>A (p.Glu556=)
NM_018297.4(NGLY1):c.1686A>G (p.Leu562=)
NM_018297.4(NGLY1):c.1695T>C (p.Asp565=) rs1575604083
NM_018297.4(NGLY1):c.1698C>T (p.Ser566=)
NM_018297.4(NGLY1):c.1725T>G (p.Thr575=)
NM_018297.4(NGLY1):c.1752A>G (p.Lys584=) rs1704903765
NM_018297.4(NGLY1):c.1758A>G (p.Arg586=)
NM_018297.4(NGLY1):c.1764T>C (p.Asp588=)
NM_018297.4(NGLY1):c.1767A>G (p.Thr589=) rs2125442804
NM_018297.4(NGLY1):c.1776A>G (p.Val592=) rs2125442764
NM_018297.4(NGLY1):c.1789+12C>G
NM_018297.4(NGLY1):c.1789+16G>A
NM_018297.4(NGLY1):c.1789+17A>C rs771273627
NM_018297.4(NGLY1):c.1789+18G>T
NM_018297.4(NGLY1):c.1789+20_1789+21del
NM_018297.4(NGLY1):c.1790-6T>C rs2125441817
NM_018297.4(NGLY1):c.1790-9dup
NM_018297.4(NGLY1):c.1794C>T (p.Asn598=) rs1575603526
NM_018297.4(NGLY1):c.1806C>T (p.Ser602=) rs2125441732
NM_018297.4(NGLY1):c.180C>G (p.Ala60=)
NM_018297.4(NGLY1):c.1848A>G (p.Ala616=)
NM_018297.4(NGLY1):c.1857C>T (p.Ser619=) rs1470026848
NM_018297.4(NGLY1):c.1875C>G (p.Val625=) rs117889176
NM_018297.4(NGLY1):c.1875C>T (p.Val625=) rs117889176
NM_018297.4(NGLY1):c.1887C>T (p.His629=) rs763977884
NM_018297.4(NGLY1):c.1917C>T (p.Asp639=)
NM_018297.4(NGLY1):c.1920T>C (p.His640=)
NM_018297.4(NGLY1):c.1923A>G (p.Glu641=)
NM_018297.4(NGLY1):c.1941A>C (p.Ile647=)
NM_018297.4(NGLY1):c.1941A>T (p.Ile647=) rs2125441327
NM_018297.4(NGLY1):c.1950A>G (p.Lys650=)
NM_018297.4(NGLY1):c.1953C>T (p.Phe651=)
NM_018297.4(NGLY1):c.195C>G (p.Leu65=)
NM_018297.4(NGLY1):c.196T>C (p.Leu66=)
NM_018297.4(NGLY1):c.21C>A (p.Gly7=)
NM_018297.4(NGLY1):c.237C>T (p.Gly79=)
NM_018297.4(NGLY1):c.240T>C (p.Phe80=)
NM_018297.4(NGLY1):c.243A>G (p.Glu81=)
NM_018297.4(NGLY1):c.246+11T>A
NM_018297.4(NGLY1):c.246+13A>C rs2125321569
NM_018297.4(NGLY1):c.246+19T>G
NM_018297.4(NGLY1):c.246+8T>C rs373747843
NM_018297.4(NGLY1):c.247-12T>C
NM_018297.4(NGLY1):c.247-17A>G
NM_018297.4(NGLY1):c.247-6T>C
NM_018297.4(NGLY1):c.255A>C (p.Thr85=)
NM_018297.4(NGLY1):c.288G>A (p.Glu96=)
NM_018297.4(NGLY1):c.291G>T (p.Gln97His) rs780364011
NM_018297.4(NGLY1):c.30A>G (p.Ser10=)
NM_018297.4(NGLY1):c.30A>T (p.Ser10=)
NM_018297.4(NGLY1):c.336A>G (p.Arg112=)
NM_018297.4(NGLY1):c.351T>C (p.Asn117=)
NM_018297.4(NGLY1):c.366A>C (p.Val122=)
NM_018297.4(NGLY1):c.369G>A (p.Lys123=)
NM_018297.4(NGLY1):c.372A>G (p.Ser124=)
NM_018297.4(NGLY1):c.375T>C (p.Ser125=)
NM_018297.4(NGLY1):c.381A>G (p.Gln127=) rs1285258448
NM_018297.4(NGLY1):c.387A>C (p.Ala129=)
NM_018297.4(NGLY1):c.387A>G (p.Ala129=)
NM_018297.4(NGLY1):c.388G>A (p.Ala130Thr) rs200042243
NM_018297.4(NGLY1):c.42C>G (p.Ser14=)
NM_018297.4(NGLY1):c.450G>A (p.Arg150=)
NM_018297.4(NGLY1):c.453C>T (p.Asn151=) rs915008062
NM_018297.4(NGLY1):c.462G>A (p.Gly154=)
NM_018297.4(NGLY1):c.477A>T (p.Pro159=)
NM_018297.4(NGLY1):c.492+18C>T
NM_018297.4(NGLY1):c.492+19C>T
NM_018297.4(NGLY1):c.492+8del
NM_018297.4(NGLY1):c.493-14T>C rs2125513393
NM_018297.4(NGLY1):c.493-15T>G
NM_018297.4(NGLY1):c.493-18T>A
NM_018297.4(NGLY1):c.493-5A>G rs760591253
NM_018297.4(NGLY1):c.493-5dup rs2125513334
NM_018297.4(NGLY1):c.493-7del
NM_018297.4(NGLY1):c.498T>G (p.Ala166=) rs1706734503
NM_018297.4(NGLY1):c.516A>T (p.Leu172=)
NM_018297.4(NGLY1):c.51G>A (p.Val17=)
NM_018297.4(NGLY1):c.552C>T (p.Val184=) rs201451376
NM_018297.4(NGLY1):c.567T>C (p.Ala189=) rs2125512978
NM_018297.4(NGLY1):c.588T>G (p.Ala196=) rs756770131
NM_018297.4(NGLY1):c.600C>T (p.Val200=)
NM_018297.4(NGLY1):c.612A>G (p.Lys204=)
NM_018297.4(NGLY1):c.636G>A (p.Ser212=) rs201479575
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly) rs551759932
NM_018297.4(NGLY1):c.645A>G (p.Arg215=)
NM_018297.4(NGLY1):c.658+14A>T
NM_018297.4(NGLY1):c.658+18T>G
NM_018297.4(NGLY1):c.658+7G>C rs752709827
NM_018297.4(NGLY1):c.659-10A>T
NM_018297.4(NGLY1):c.659-15C>G
NM_018297.4(NGLY1):c.659-17C>T
NM_018297.4(NGLY1):c.659-19T>A
NM_018297.4(NGLY1):c.659-20dup
NM_018297.4(NGLY1):c.666T>C (p.Asn222=)
NM_018297.4(NGLY1):c.675T>C (p.Asp225=)
NM_018297.4(NGLY1):c.6G>A (p.Ala2=)
NM_018297.4(NGLY1):c.6G>C (p.Ala2=)
NM_018297.4(NGLY1):c.720A>G (p.Glu240=)
NM_018297.4(NGLY1):c.729C>T (p.His243=)
NM_018297.4(NGLY1):c.745T>C (p.Leu249=) rs2125485452
NM_018297.4(NGLY1):c.795G>A (p.Leu265=)
NM_018297.4(NGLY1):c.795G>T (p.Leu265=)
NM_018297.4(NGLY1):c.798C>T (p.Pro266=)
NM_018297.4(NGLY1):c.804T>C (p.Asp268=)
NM_018297.4(NGLY1):c.816G>A (p.Lys272=)
NM_018297.4(NGLY1):c.834G>T (p.Val278=) rs1437417087
NM_018297.4(NGLY1):c.881+10C>G rs780077758
NM_018297.4(NGLY1):c.881+10C>T rs780077758
NM_018297.4(NGLY1):c.881+12G>C rs758181219
NM_018297.4(NGLY1):c.881+16G>A
NM_018297.4(NGLY1):c.881+17G>A
NM_018297.4(NGLY1):c.881+18T>C
NM_018297.4(NGLY1):c.882-13dup
NM_018297.4(NGLY1):c.882-19T>G
NM_018297.4(NGLY1):c.882-7A>T rs1575620004
NM_018297.4(NGLY1):c.882-9T>G
NM_018297.4(NGLY1):c.939C>G (p.Ala313=)
NM_018297.4(NGLY1):c.93C>T (p.Ala31=)
NM_018297.4(NGLY1):c.954G>A (p.Leu318=)
NM_018297.4(NGLY1):c.961C>A (p.Arg321=)
NM_018297.4(NGLY1):c.96C>G (p.Ser32=) rs1454302547
NM_018297.4(NGLY1):c.96C>T (p.Ser32=)
NM_018297.4(NGLY1):c.978A>G (p.Glu326=)

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