ClinVar Miner

List of variants in gene GLDC reported as likely pathogenic for inborn disorder of serine family metabolism

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 318
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys) rs148775220 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg) rs386833549 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile) rs751822565 0.00002
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp) rs183024300 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn) rs151163582 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1401+1G>A rs1211616091 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln) rs747853668 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter) rs1251538998 0.00001
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000170.3(GLDC):c.2052+1G>C rs765906340 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp) rs1817625926 0.00001
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter) rs373618804 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe) rs763075374 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln) rs1452327155 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly) rs1288008254 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000170.3(GLDC):c.714-2A>G rs1170385434 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000170.3(GLDC):c.943G>A (p.Gly315Ser) rs1292183482 0.00001
NC_000009.11:g.(?_6550783)_(6565449_?)dup
NC_000009.11:g.(?_6550783)_(6610376_?)dup
NC_000009.11:g.(?_6550793)_(6550924_?)dup
NC_000009.11:g.(?_6550793)_(6558694_?)dup
NC_000009.11:g.(?_6558564)_(6559850_?)del
NC_000009.11:g.(?_6587131)_(6595129_?)dup
NC_000009.11:g.(?_6602089)_(6604804_?)del
NC_000009.12:g.(?_6533007)_(6550924_?)del
NC_000009.12:g.(?_6558539)_(6558704_?)del
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter) rs1818692381
NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter) rs555359738
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
NM_000170.3(GLDC):c.1057_1058+13del
NM_000170.3(GLDC):c.1059-1G>C rs1587958061
NM_000170.3(GLDC):c.1059-1G>T rs1587958061
NM_000170.3(GLDC):c.1072A>T (p.Lys358Ter) rs1818624667
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr) rs1300550278
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)
NM_000170.3(GLDC):c.1155+1G>T
NM_000170.3(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)
NM_000170.3(GLDC):c.1261+1G>C
NM_000170.3(GLDC):c.1261+2T>A rs1818463608
NM_000170.3(GLDC):c.1285_1286insCAAA (p.Leu429fs) rs386833522
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter) rs1818407147
NM_000170.3(GLDC):c.1299del (p.Phe434fs)
NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn) rs386833523
NM_000170.3(GLDC):c.1333_1334del (p.Val446fs)
NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter) rs1818405533
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter) rs1818404451
NM_000170.3(GLDC):c.1401+5G>T
NM_000170.3(GLDC):c.1402-13T>G
NM_000170.3(GLDC):c.1402-1G>A rs386833525
NM_000170.3(GLDC):c.1402-1G>C rs386833525
NM_000170.3(GLDC):c.1402-2A>T
NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg) rs1587950355
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1506_1507insCACTT (p.Glu503fs)
NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter) rs1038321056
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr) rs386833528
NM_000170.3(GLDC):c.1619_1621delinsT (p.Lys540fs)
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val) rs1554646653
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1665+2del
NM_000170.3(GLDC):c.1666-1G>A
NM_000170.3(GLDC):c.1666-1G>C
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1708-1G>C
NM_000170.3(GLDC):c.1740C>G (p.His580Gln) rs1587946346
NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter) rs1818289261
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter) rs1818289122
NM_000170.3(GLDC):c.1800_1801insAGACAGT (p.Asp601delinsArgGlnTer)
NM_000170.3(GLDC):c.1805dup (p.Leu602fs)
NM_000170.3(GLDC):c.1811_1812insCACTCAGCAGCAG (p.Glu604fs)
NM_000170.3(GLDC):c.1812del (p.Glu604fs) rs2129831647
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
NM_000170.3(GLDC):c.1822_1832del (p.Tyr608fs) rs386833532
NM_000170.3(GLDC):c.1825_1826del (p.Asp609fs)
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr) rs2129831448
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu) rs2129831443
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile) rs1818287644
NM_000170.3(GLDC):c.1850+1G>T rs774099283
NM_000170.3(GLDC):c.1850+1del rs1399754800
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
NM_000170.3(GLDC):c.1912G>T (p.Glu638Ter)
NM_000170.3(GLDC):c.1926+1G>A rs386833534
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1926+5G>C
NM_000170.3(GLDC):c.1927-1G>A rs2129735367
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe) rs386833535
NM_000170.3(GLDC):c.1940C>G (p.Pro647Arg)
NM_000170.3(GLDC):c.1951C>G (p.His651Asp) rs2129735272
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter) rs386833537
NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter) rs1563836857
NM_000170.3(GLDC):c.2017del (p.Tyr673fs)
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000170.3(GLDC):c.2053-2A>C rs1323060528
NM_000170.3(GLDC):c.2053-2A>G
NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro) rs386833538
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.3(GLDC):c.2092A>G (p.Thr698Ala)
NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter) rs149694787
NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala) rs386833539
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile) rs386833540
NM_000170.3(GLDC):c.2118_2119del (p.Phe706fs)
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
NM_000170.3(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer) rs386833541
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter) rs779434645
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)
NM_000170.3(GLDC):c.2189del (p.Asn730fs)
NM_000170.3(GLDC):c.2194_2197del (p.Asn732fs)
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr) rs2129725849
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2204_2205del (p.Val735fs)
NM_000170.3(GLDC):c.2212_2218del (p.Cys738fs)
NM_000170.3(GLDC):c.2213_2214del (p.Cys738fs) rs386833546
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
NM_000170.3(GLDC):c.223C>T (p.Gln75Ter)
NM_000170.3(GLDC):c.2258A>C (p.His753Pro) rs386833547
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
NM_000170.3(GLDC):c.2279A>T (p.His760Leu) rs1817583687
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala) rs2129719653
NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu) rs386833552
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala) rs760077981
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2315+2T>G rs1554643738
NM_000170.3(GLDC):c.2366del (p.Lys789fs)
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro) rs2130031802
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.2422del (p.Ser808fs) rs386833558
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.3(GLDC):c.2458-1G>T rs1554643370
NM_000170.3(GLDC):c.2458-2A>G rs1259354298
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter) rs1447727878
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter) rs1209943477
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter) rs1817497939
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.3(GLDC):c.255+1G>A rs386833563
NM_000170.3(GLDC):c.255+2T>C
NM_000170.3(GLDC):c.255+3A>T rs1417674040
NM_000170.3(GLDC):c.256-2A>G
NM_000170.3(GLDC):c.2570-2A>G
NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter) rs765893483
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2666-1G>A rs1429861000
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser) rs2129650066
NM_000170.3(GLDC):c.2680del (p.Thr894fs)
NM_000170.3(GLDC):c.2690G>A (p.Trp897Ter)
NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter) rs1817123754
NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter) rs759933539
NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val) rs1817122724
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter) rs1817121202
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2839-1G>C rs386833569
NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu) rs386833570
NM_000170.3(GLDC):c.2849A>G (p.His950Arg)
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp) rs1172061571
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly) rs386833573
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000170.3(GLDC):c.2906del (p.Ala969fs)
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.2998dup (p.Cys1000fs)
NM_000170.3(GLDC):c.302T>A (p.Leu101Ter) rs1819702000
NM_000170.3(GLDC):c.315_316del (p.Lys106fs)
NM_000170.3(GLDC):c.334+1G>C rs978795483
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.335-1G>C rs1554649675
NM_000170.3(GLDC):c.335-1G>T
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp) rs386833576
NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe) rs386833577
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter) rs2129948971
NM_000170.3(GLDC):c.433C>T (p.Gln145Ter) rs1819059889
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.447del (p.Asn150fs)
NM_000170.3(GLDC):c.449A>C (p.Asn150Thr) rs386833578
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser) rs386833578
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.464C>G (p.Ser155Ter)
NM_000170.3(GLDC):c.466G>T (p.Gly156Ter) rs1819058509
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu) rs2129948795
NM_000170.3(GLDC):c.471-1G>C rs1818826951
NM_000170.3(GLDC):c.471-1G>T
NM_000170.3(GLDC):c.471G>A (p.Trp157Ter)
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)
NM_000170.3(GLDC):c.493del (p.Gln165fs)
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.3(GLDC):c.513G>C (p.Gly171=) rs386833581
NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)
NM_000170.3(GLDC):c.548_550delinsA (p.Val183fs)
NM_000170.3(GLDC):c.552T>A (p.Cys184Ter) rs759699162
NM_000170.3(GLDC):c.560C>A (p.Thr187Lys) rs386833582
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg) rs386833582
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly) rs386833583
NM_000170.3(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.3(GLDC):c.622C>T (p.Gln208Ter) rs1163351205
NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter) rs776895767
NM_000170.3(GLDC):c.635+1G>A rs1368757896
NM_000170.3(GLDC):c.635+1G>C rs1368757896
NM_000170.3(GLDC):c.635+1G>T
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.636-2A>G
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.707G>A (p.Arg236Gln)
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro) rs772832052
NM_000170.3(GLDC):c.713+1G>A rs903653902
NM_000170.3(GLDC):c.714-1G>A rs2129898670
NM_000170.3(GLDC):c.734_735delinsT (p.Glu245fs)
NM_000170.3(GLDC):c.74del (p.Gly25fs)
NM_000170.3(GLDC):c.754del (p.Met252fs)
NM_000170.3(GLDC):c.773_774insGACAGTA (p.Asp258fs)
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp) rs1818705322
NM_000170.3(GLDC):c.808G>T (p.Glu270Ter) rs386833588
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
NM_000170.3(GLDC):c.848C>G (p.Ala283Gly) rs2129898042
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter) rs1818703974
NM_000170.3(GLDC):c.861+1G>T rs386833590
NM_000170.3(GLDC):c.862-2A>G
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg) rs141014950
NM_000170.3(GLDC):c.887T>G (p.Leu296Arg) rs386833591
NM_000170.3(GLDC):c.896T>A (p.Leu299Ter) rs1818695432
NM_000170.3(GLDC):c.900C>A (p.Cys300Ter) rs143256976
NM_000170.3(GLDC):c.905T>A (p.Leu302Ter)
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln) rs1207147043
NM_000170.3(GLDC):c.919G>T (p.Glu307Ter)
NM_000170.3(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.3(GLDC):c.951_952del (p.Gln318fs)
NM_000170.3(GLDC):c.959_960del (p.Phe320fs)
NM_000170.3(GLDC):c.985C>A (p.Pro329Thr) rs386833593
NM_000170.3(GLDC):c.989A>G (p.His330Arg) rs1267445922

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