ClinVar Miner

List of variants studied for GTP cyclohydrolase I deficiency

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.-121T>C rs1753589 0.96017
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_000161.3(GCH1):c.*732A>G rs45454691 0.10500
NM_000161.3(GCH1):c.*1230C>T rs56130647 0.07553
NM_000161.3(GCH1):c.-40C>T rs28458175 0.05363
NM_000161.3(GCH1):c.*1183C>T rs76009965 0.05289
NM_000161.3(GCH1):c.-131C>T rs115939621 0.04950
NM_000161.3(GCH1):c.*1056_*1057insAT rs144676716 0.04397
NM_000161.3(GCH1):c.*1142G>A rs10151500 0.04130
NM_000161.3(GCH1):c.*1915T>C rs17128017 0.01571
NM_000161.3(GCH1):c.*1463_*1464dup rs55885280 0.01521
NM_000161.3(GCH1):c.-69G>C rs533157442 0.00580
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
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.*12T>C rs190993883 0.00057
NM_000161.3(GCH1):c.*20C>T rs143111433 0.00049
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000161.3(GCH1):c.*1719C>T rs551251353 0.00038
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000161.3(GCH1):c.*1479G>T rs533240612 0.00034
NM_000161.3(GCH1):c.*1130C>G rs543818323 0.00031
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000161.3(GCH1):c.69C>T (p.Pro23=) rs767294964 0.00023
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.*256A>G rs181674470 0.00014
NM_000161.3(GCH1):c.-56G>A rs866010535 0.00013
NM_000161.3(GCH1):c.*695T>A rs996768677 0.00012
NM_000161.3(GCH1):c.*721A>G rs759090432 0.00012
NM_000161.2(GCH1):c.-169C>T rs538405738 0.00009
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.-125A>C rs886050554 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.-106G>A rs886050553 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.-5G>C rs886050550 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.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1176C>G rs113211390
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.*677G>A rs10136966
NM_000161.3(GCH1):c.*727A>G rs138578359
NM_000161.3(GCH1):c.*830A>T rs542811477
NM_000161.3(GCH1):c.*883CTT[3] rs145762799
NM_000161.3(GCH1):c.*935A>C rs2039584676
NM_000161.3(GCH1):c.-72C>T rs886050551
NM_000161.3(GCH1):c.-98C>T rs886050552
NM_000161.3(GCH1):c.26_27insTCT (p.Pro9_Ala10insLeu) rs1595031768
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000161.3(GCH1):c.632T>C (p.Met211Thr) rs1566658823
NM_000161.3(GCH1):c.633G>A (p.Met211Ile) rs104894443
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440

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