ClinVar Miner

List of variants in gene GCH1 reported as uncertain significance for GTP cyclohydrolase I deficiency

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.*93G>A rs41298438 0.00249
NM_000161.3(GCH1):c.*736A>G rs150176097 0.00151
NM_000161.3(GCH1):c.*1628A>C rs185031007 0.00106
NM_000161.3(GCH1):c.*1044G>A rs143961472 0.00088
NM_000161.3(GCH1):c.*1719C>T rs551251353 0.00038
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000161.3(GCH1):c.*612C>T rs551381738 0.00022
NM_000161.3(GCH1):c.*715G>T rs886050545 0.00022
NM_000161.3(GCH1):c.*1033C>T rs867220379 0.00015
NM_000161.3(GCH1):c.*695T>A rs996768677 0.00012
NM_000161.3(GCH1):c.*721A>G rs759090432 0.00012
NM_000161.3(GCH1):c.509+3A>G rs369661042 0.00008
NM_000161.3(GCH1):c.297C>T (p.Ala99=) rs776450369 0.00007
NM_000161.3(GCH1):c.*1010C>T rs764569623 0.00006
NM_000161.3(GCH1):c.*1257C>T rs763425111 0.00006
NM_000161.3(GCH1):c.*367G>A rs886050548 0.00006
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777 0.00006
NM_000161.3(GCH1):c.*1824A>C rs754395380 0.00005
NM_000161.3(GCH1):c.543T>G (p.Val181=) rs765670568 0.00005
NM_000161.3(GCH1):c.*1058G>A rs995386735 0.00004
NM_000161.3(GCH1):c.*441G>A rs146536998 0.00004
NM_000161.3(GCH1):c.*507C>G rs886050547 0.00003
NM_000161.3(GCH1):c.509+8T>A rs753570450 0.00003
NM_000161.3(GCH1):c.*34C>T rs757193609 0.00002
NM_000161.3(GCH1):c.195G>A (p.Glu65=) rs139350456 0.00002
NM_000161.3(GCH1):c.*1042A>G rs549379993 0.00001
NM_000161.3(GCH1):c.*1855A>G rs1357329918 0.00001
NM_000161.3(GCH1):c.*617A>G rs886050546 0.00001
NM_000161.3(GCH1):c.*641G>A rs1350159556 0.00001
NM_000161.3(GCH1):c.334A>G (p.Thr112Ala) rs199990434 0.00001
NM_000161.3(GCH1):c.627-12C>T rs886050549 0.00001
NM_000161.3(GCH1):c.*1283A>C rs886050544
NM_000161.3(GCH1):c.*1294A>G rs2039576937
NM_000161.3(GCH1):c.*1473A>G rs886050543
NM_000161.3(GCH1):c.*155AATA[1] rs752359690
NM_000161.3(GCH1):c.*1907A>G rs886050542
NM_000161.3(GCH1):c.*243C>G rs841
NM_000161.3(GCH1):c.*278C>T rs756583192
NM_000161.3(GCH1):c.*727A>G rs138578359
NM_000161.3(GCH1):c.*830A>T rs542811477
NM_000161.3(GCH1):c.*935A>C rs2039584676
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.626+9G>T rs374007793

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