List of variants in gene GCH1 reported as benign for inborn disorder of amino acid and other organic acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
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.*1183C>T	rs76009965	0.05289
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.509+15G>A	rs116688703	0.00856
NM_000161.3(GCH1):c.*93G>A	rs41298438	0.00249
NM_000161.3(GCH1):c.211C>T (p.Leu71=)	rs141883031	0.00227
NM_000161.3(GCH1):c.*736A>G	rs150176097	0.00151
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.206C>T (p.Pro69Leu)	rs56127440	0.00035
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.*256A>G	rs181674470	0.00014
NM_000161.3(GCH1):c.582G>A (p.Thr194=)	rs199836777	0.00006
NM_000161.3(GCH1):c.*1010C>T	rs764569623	0.00004
NM_000161.3(GCH1):c.509+8T>A	rs753570450	0.00003
NM_000161.3(GCH1):c.542-19C>T	rs201405174	0.00003
NM_000161.3(GCH1):c.*1122A>T	rs56126158
NM_000161.3(GCH1):c.*1176C>G	rs113211390
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.626+9G>T	rs374007793

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