ClinVar Miner

List of variants in gene GLYCTK reported as uncertain significance for D-glyceric aciduria

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile) rs150662353 0.00088
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu) rs73088796 0.00059
NM_145262.4(GLYCTK):c.1460A>G (p.Asn487Ser) rs767047161 0.00019
NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu) rs758823918 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp) rs199906865 0.00009
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu) rs773672318 0.00003
NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr) rs1700426072
NM_145262.4(GLYCTK):c.1132G>A (p.Ala378Thr)
NM_145262.4(GLYCTK):c.304G>A (p.Gly102Ser) rs558300707
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser) rs1379123977
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del) rs1553621315
NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr)

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