ClinVar Miner

List of variants in gene GCH1 reported as likely benign for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.*1463_*1464dup rs55885280 0.01521
NM_000161.3(GCH1):c.*20C>T rs143111433 0.00049
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.*256A>G rs181674470 0.00014
NM_000161.3(GCH1):c.145C>G (p.Pro49Ala) rs573085618 0.00009
NM_000161.3(GCH1):c.147C>G (p.Pro49=) rs377631489 0.00008
NM_000161.3(GCH1):c.354C>T (p.Asn118=) rs779337121 0.00008
NM_000161.3(GCH1):c.225C>T (p.Tyr75=) rs961694546 0.00007
NM_000161.3(GCH1):c.297C>T (p.Ala99=) rs776450369 0.00007
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777 0.00006
NM_000161.3(GCH1):c.543T>G (p.Val181=) rs765670568 0.00005
NM_000161.3(GCH1):c.509+19T>C rs374420051 0.00004
NM_000161.3(GCH1):c.510-19A>T rs778122258 0.00004
NM_000161.3(GCH1):c.239G>A (p.Ser80Asn) rs770547722 0.00003
NM_000161.3(GCH1):c.324C>T (p.Gly108=) rs772386583 0.00003
NM_000161.3(GCH1):c.343+8C>A rs370233441 0.00003
NM_000161.3(GCH1):c.348C>T (p.Val116=) rs1212537614 0.00003
NM_000161.3(GCH1):c.454-15G>A rs559391590 0.00003
NM_000161.3(GCH1):c.509+8T>A rs753570450 0.00003
NM_000161.3(GCH1):c.542-18T>A rs1362048177 0.00003
NM_000161.3(GCH1):c.195G>A (p.Glu65=) rs139350456 0.00002
NM_000161.3(GCH1):c.343+7G>A rs754924703 0.00002
NM_000161.3(GCH1):c.435G>A (p.Leu145=) rs763677193 0.00002
NM_000161.3(GCH1):c.150G>A (p.Ala50=) rs1001181151 0.00001
NM_000161.3(GCH1):c.153C>T (p.Asp51=) rs745516526 0.00001
NM_000161.3(GCH1):c.204C>T (p.Leu68=) rs557778839 0.00001
NM_000161.3(GCH1):c.294G>T (p.Ala98=) rs765416856 0.00001
NM_000161.3(GCH1):c.300G>A (p.Ser100=) rs777068790 0.00001
NM_000161.3(GCH1):c.344-15A>G rs1181987843 0.00001
NM_000161.3(GCH1):c.408C>T (p.Asp136=) rs753357224 0.00001
NM_000161.3(GCH1):c.510-14T>A rs748309367 0.00001
NM_000161.3(GCH1):c.541+15T>C rs780398294 0.00001
NM_000161.3(GCH1):c.592C>A (p.Arg198=) rs752447862 0.00001
NM_000161.3(GCH1):c.626+20T>C rs775439923 0.00001
NM_000161.3(GCH1):c.691T>C (p.Leu231=) rs915108762 0.00001
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1176C>G rs113211390
NM_000161.3(GCH1):c.126C>A (p.Pro42=) rs2140127497
NM_000161.3(GCH1):c.126C>T (p.Pro42=) rs2140127497
NM_000161.3(GCH1):c.141G>A (p.Ala47=)
NM_000161.3(GCH1):c.141G>T (p.Ala47=)
NM_000161.3(GCH1):c.156C>T (p.Gly52=)
NM_000161.3(GCH1):c.162G>A (p.Lys54=)
NM_000161.3(GCH1):c.165C>T (p.Gly55=) rs2040583785
NM_000161.3(GCH1):c.168G>A (p.Glu56=) rs2140127407
NM_000161.3(GCH1):c.174C>T (p.Pro58=)
NM_000161.3(GCH1):c.183G>A (p.Glu61=)
NM_000161.3(GCH1):c.186G>A (p.Glu62=)
NM_000161.3(GCH1):c.192C>T (p.Asn64=) rs1486693649
NM_000161.3(GCH1):c.196C>T (p.Leu66=)
NM_000161.3(GCH1):c.198G>C (p.Leu66=)
NM_000161.3(GCH1):c.234C>T (p.Ile78=)
NM_000161.3(GCH1):c.235C>T (p.Leu79=)
NM_000161.3(GCH1):c.243G>T (p.Ser81=) rs557028351
NM_000161.3(GCH1):c.246G>C (p.Leu82=)
NM_000161.3(GCH1):c.252G>A (p.Glu84=) rs1263510185
NM_000161.3(GCH1):c.255C>T (p.Asn85=)
NM_000161.3(GCH1):c.270G>A (p.Gly90=)
NM_000161.3(GCH1):c.273G>A (p.Leu91=)
NM_000161.3(GCH1):c.300G>C (p.Ser100=)
NM_000161.3(GCH1):c.303C>T (p.Ala101=)
NM_000161.3(GCH1):c.324C>A (p.Gly108=)
NM_000161.3(GCH1):c.327C>T (p.Tyr109=)
NM_000161.3(GCH1):c.343+10C>T
NM_000161.3(GCH1):c.343+11C>T
NM_000161.3(GCH1):c.343+12C>G
NM_000161.3(GCH1):c.343+12dup rs759191308
NM_000161.3(GCH1):c.343+13G>T
NM_000161.3(GCH1):c.343+14C>G
NM_000161.3(GCH1):c.343+14_343+15del
NM_000161.3(GCH1):c.343+16G>A
NM_000161.3(GCH1):c.343+17G>A
NM_000161.3(GCH1):c.343+7G>T
NM_000161.3(GCH1):c.343+9G>C
NM_000161.3(GCH1):c.343+9G>T
NM_000161.3(GCH1):c.344-14G>C
NM_000161.3(GCH1):c.344-9del
NM_000161.3(GCH1):c.349C>T (p.Leu117=)
NM_000161.3(GCH1):c.351A>C (p.Leu117=)
NM_000161.3(GCH1):c.360T>A (p.Ala120=)
NM_000161.3(GCH1):c.369T>C (p.Asp123=)
NM_000161.3(GCH1):c.432C>T (p.His144=)
NM_000161.3(GCH1):c.440_453+9dup
NM_000161.3(GCH1):c.453+11C>G
NM_000161.3(GCH1):c.453+14T>C
NM_000161.3(GCH1):c.453+16T>C
NM_000161.3(GCH1):c.454-11C>T
NM_000161.3(GCH1):c.454-13C>G
NM_000161.3(GCH1):c.454-16C>T
NM_000161.3(GCH1):c.474T>C (p.Pro158=)
NM_000161.3(GCH1):c.480G>A (p.Lys160=)
NM_000161.3(GCH1):c.486C>A (p.Val162=)
NM_000161.3(GCH1):c.498C>T (p.Ser166=)
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.509+12T>A
NM_000161.3(GCH1):c.509+12T>C rs760292517
NM_000161.3(GCH1):c.509+14T>C
NM_000161.3(GCH1):c.509+16C>T
NM_000161.3(GCH1):c.509+20G>C
NM_000161.3(GCH1):c.509+9G>A
NM_000161.3(GCH1):c.509+9G>T
NM_000161.3(GCH1):c.510-13C>A
NM_000161.3(GCH1):c.510-13C>G rs1172601960
NM_000161.3(GCH1):c.510-18C>T
NM_000161.3(GCH1):c.510-19A>G rs778122258
NM_000161.3(GCH1):c.510-8T>C rs2140043752
NM_000161.3(GCH1):c.510-9C>G
NM_000161.3(GCH1):c.525T>C (p.Tyr175=)
NM_000161.3(GCH1):c.541+10A>G
NM_000161.3(GCH1):c.542-13A>G
NM_000161.3(GCH1):c.542-20G>A
NM_000161.3(GCH1):c.542-9C>T
NM_000161.3(GCH1):c.549G>A (p.Glu183=)
NM_000161.3(GCH1):c.573A>G (p.Val191=)
NM_000161.3(GCH1):c.594G>T (p.Arg198=)
NM_000161.3(GCH1):c.606C>T (p.Val202=) rs1171007081
NM_000161.3(GCH1):c.615G>A (p.Val205=)
NM_000161.3(GCH1):c.626+17C>G rs2140041535
NM_000161.3(GCH1):c.626+18T>A
NM_000161.3(GCH1):c.626+7C>G
NM_000161.3(GCH1):c.626+7C>T
NM_000161.3(GCH1):c.626+9G>C
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000161.3(GCH1):c.627-10del
NM_000161.3(GCH1):c.627-14_627-10del
NM_000161.3(GCH1):c.627-19G>T
NM_000161.3(GCH1):c.642A>G (p.Val214=)
NM_000161.3(GCH1):c.675T>A (p.Thr225=)
NM_000161.3(GCH1):c.687A>G (p.Thr229=)
NM_000161.3(GCH1):c.705G>C (p.Arg235=)
NM_000161.3(GCH1):c.714A>T (p.Pro238=)
NM_000161.3(GCH1):c.732C>T (p.Phe244=) rs745929907
NM_000161.3(GCH1):c.752G>A (p.Ter251=)

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