ClinVar Miner

List of variants in gene GLDC reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys) rs148775220 0.00009
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu) rs367987650 0.00002
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 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.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp) rs1817625926 0.00001
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln) rs1452327155 0.00001
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly) rs1288008254 0.00001
NM_000170.3(GLDC):c.714-2A>G rs1170385434 0.00001
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.1040G>A (p.Arg347Lys)
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.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.1261+1G>C
NM_000170.3(GLDC):c.1261+2T>A rs1818463608
NM_000170.3(GLDC):c.1401+5G>T
NM_000170.3(GLDC):c.1402-1G>A rs386833525
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
NM_000170.3(GLDC):c.1665+2del
NM_000170.3(GLDC):c.1666-1G>A
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1740C>G (p.His580Gln) rs1587946346
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
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+1del rs1399754800
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1927-1G>A rs2129735367
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.2146C>T (p.Leu716Phe)
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr) rs2129725849
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
NM_000170.3(GLDC):c.2279A>T (p.His760Leu) rs1817583687
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
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.2312G>C (p.Gly771Ala) rs760077981
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr) rs1554643619
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro) rs2130031802
NM_000170.3(GLDC):c.255+3A>T rs1417674040
NM_000170.3(GLDC):c.2570-2A>G
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2666-1G>A rs1429861000
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser) rs2129650066
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val) rs1817122724
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp) rs1172061571
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.335-1G>C rs1554649675
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser) rs386833578
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.594T>A (p.Asp198Glu)
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly) rs386833583
NM_000170.3(GLDC):c.635+1G>A rs1368757896
NM_000170.3(GLDC):c.635+1G>T
NM_000170.3(GLDC):c.636-2A>G
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.796T>G (p.Tyr266Asp) rs1818705322
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg) rs141014950
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln) rs1207147043

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