ClinVar Miner

List of variants in gene GCDH, LOC126862860, SYCE2 studied for glutaryl-CoA dehydrogenase deficiency

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_000159.4(GCDH):c.*101G>A rs140251161 0.00067
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000159.4(GCDH):c.*70G>A rs760840900 0.00025
NM_000159.4(GCDH):c.*340G>A rs190174770 0.00014
NM_000159.4(GCDH):c.1244-15A>G rs201407990 0.00014
NM_000159.4(GCDH):c.1299G>A (p.Ala433=) rs150271870 0.00008
NM_000159.4(GCDH):c.*307G>A rs533356351 0.00004
NM_000159.4(GCDH):c.1275G>A (p.Gly425=) rs778633875 0.00004
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000159.4(GCDH):c.*96G>T rs376487828 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg) rs771126053 0.00002
NM_000159.4(GCDH):c.*201A>C rs1356787323 0.00001
NM_000159.4(GCDH):c.1244-4C>A rs774546166 0.00001
NM_000159.4(GCDH):c.1260C>T (p.His420=) rs777575306 0.00001
NM_000159.4(GCDH):c.1266G>A (p.Leu422=) rs148091111 0.00001
NM_000159.4(GCDH):c.1269C>T (p.Ile423=) rs1336423127 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.*182AGA[1] rs1555752085
NM_000159.4(GCDH):c.*331T>C rs869025297
NM_000159.4(GCDH):c.*332C>A rs869025298
NM_000159.4(GCDH):c.*61C>T rs368816047
NM_000159.4(GCDH):c.1244-10T>C
NM_000159.4(GCDH):c.1244-11A>C
NM_000159.4(GCDH):c.1244-13T>C
NM_000159.4(GCDH):c.1244-17G>A
NM_000159.4(GCDH):c.1244-17G>C
NM_000159.4(GCDH):c.1244-17_1244-16del rs745657713
NM_000159.4(GCDH):c.1244-1G>A rs1160507620
NM_000159.4(GCDH):c.1244-2A>G rs199999619
NM_000159.4(GCDH):c.1244-4C>T rs774546166
NM_000159.4(GCDH):c.1244-6G>A rs1384861178
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile) rs121434368
NM_000159.4(GCDH):c.1249C>G (p.His417Asp) rs1405935475
NM_000159.4(GCDH):c.1249C>T (p.His417Tyr)
NM_000159.4(GCDH):c.1251T>C (p.His417=)
NM_000159.4(GCDH):c.1254C>T (p.Asp418=)
NM_000159.4(GCDH):c.1274G>A (p.Gly425Glu) rs2145959018
NM_000159.4(GCDH):c.1274G>T (p.Gly425Val)
NM_000159.4(GCDH):c.1278A>G (p.Arg426=)
NM_000159.4(GCDH):c.1287G>A (p.Thr429=) rs141819282
NM_000159.4(GCDH):c.1287G>T (p.Thr429=) rs141819282
NM_000159.4(GCDH):c.1290A>T (p.Gly430=)
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu) rs933624223
NM_000159.4(GCDH):c.1305G>A (p.Thr435=) rs200081311
NM_000159.4(GCDH):c.1305G>C (p.Thr435=) rs200081311
NM_000159.4(GCDH):c.1314dup (p.Ter439ValextTer?)
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp) rs1555751995

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