ClinVar Miner

List of variants in gene GLDC studied for Inborn genetic diseases

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.698T>C (p.Val233Ala) rs140013612 0.00034
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00032
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg) rs190430477 0.00028
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser) rs150943866 0.00026
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.661G>A (p.Val221Ile) rs144043066 0.00007
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2578G>A (p.Gly860Ser) rs753759723 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.2035G>A (p.Val679Ile) rs778376889 0.00004
NM_000170.3(GLDC):c.745C>T (p.Pro249Ser) rs778202301 0.00004
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln) rs777365335 0.00002
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser) rs372136194 0.00002
NM_000170.3(GLDC):c.1510G>C (p.Glu504Gln) rs1038321056 0.00002
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp) rs773119895 0.00001
NM_000170.3(GLDC):c.2600C>T (p.Thr867Met) rs749852046 0.00001
NM_000170.3(GLDC):c.439_441dup (p.Ile147dup) rs1157234920 0.00001
NM_000170.3(GLDC):c.1323G>C (p.Gln441His)
NM_000170.3(GLDC):c.1326T>A (p.Cys442Ter)
NM_000170.3(GLDC):c.1330T>A (p.Cys444Ser)
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.2501T>C (p.Ile834Thr)
NM_000170.3(GLDC):c.2526G>C (p.Lys842Asn) rs548033815
NM_000170.3(GLDC):c.2954C>T (p.Thr985Met)
NM_000170.3(GLDC):c.29T>G (p.Leu10Arg)
NM_000170.3(GLDC):c.3002C>G (p.Thr1001Ser)
NM_000170.3(GLDC):c.35T>G (p.Leu12Arg)
NM_000170.3(GLDC):c.47T>G (p.Val16Gly)
NM_000170.3(GLDC):c.602C>G (p.Thr201Ser)
NM_000170.3(GLDC):c.610G>A (p.Ala204Thr)
NM_000170.3(GLDC):c.635+3G>C
NM_000170.3(GLDC):c.643A>G (p.Lys215Glu) rs907616957
NM_000170.3(GLDC):c.827T>C (p.Phe276Ser) rs967825860
NM_000170.3(GLDC):c.94C>A (p.Pro32Thr)
NM_000170.3(GLDC):c.985C>A (p.Pro329Thr) rs386833593

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