ClinVar Miner

Variants in gene GLDC with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 57
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln) rs140516872 0.00127
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_000170.3(GLDC):c.2964G>A (p.Arg988=) rs146045718 0.00095
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696 0.00078
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_000170.3(GLDC):c.1530G>A (p.Gly510=) rs145665442 0.00019
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029 0.00017
NM_000170.3(GLDC):c.2352C>T (p.Pro784=) rs367781728 0.00017
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr) rs749513146 0.00016
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853 0.00014
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000170.3(GLDC):c.2028C>T (p.Ile676=) rs372604935 0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292 0.00006
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys) rs139931025 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp) rs141875337 0.00005
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155 0.00005
NM_000170.3(GLDC):c.1483-15G>C rs371777070 0.00004
NM_000170.3(GLDC):c.150G>A (p.Ser50=) rs768354829 0.00004
NM_000170.3(GLDC):c.1626A>G (p.Glu542=) rs779537709 0.00004
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310 0.00004
NM_000170.3(GLDC):c.1453T>C (p.Leu485=) rs760562478 0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn) rs770826242 0.00003
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542 0.00001
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln) rs767652664 0.00001
NM_000170.3(GLDC):c.1402-14T>G rs376719104 0.00001
NM_000170.3(GLDC):c.1665+7A>T rs759573888 0.00001
NM_000170.3(GLDC):c.1734C>T (p.Asn578=) rs1034614089 0.00001
NM_000170.3(GLDC):c.1830G>A (p.Gln610=) rs765268971 0.00001
NM_000170.3(GLDC):c.2145C>T (p.Asp715=) rs769158507 0.00001
NM_000170.3(GLDC):c.2742A>T (p.Ala914=) rs374022098 0.00001
NM_000170.3(GLDC):c.2925C>T (p.Phe975=) rs1052505781 0.00001
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg) rs201049516 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg) rs761064507
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.1927-4G>A rs576723612
NM_000170.3(GLDC):c.2148C>T (p.Leu716=) rs367750112
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser) rs567167527
NM_000170.3(GLDC):c.2569+8T>G rs894742250
NM_000170.3(GLDC):c.2859C>G (p.Thr953=) rs1817083513
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.861+11C>G rs757254927

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