ClinVar Miner

Variants in gene GLDC with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 82
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HGVS dbSNP gnomAD frequency
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.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.2678C>T (p.Pro893Leu) rs367987650 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.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.2186del (p.Ala729fs) rs386833543 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.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 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.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter) rs1818407147
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1850+1G>T rs774099283
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
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.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2315+2T>G rs1554643738
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.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.3(GLDC):c.2458-2A>G rs1259354298
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
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.2527C>T (p.Arg843Ter) rs1554643360
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.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.27del (p.Leu10fs) rs1414541286
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.334+1G>C rs978795483
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter) rs2129948971
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586

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