ClinVar Miner

List of variants in gene GCH1 studied for dystonia 5

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 376
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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.*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.*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.*715G>T rs886050545 0.00052
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.*1130C>G rs543818323 0.00031
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000161.3(GCH1):c.*612C>T rs551381738 0.00027
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.453+6G>A rs766668821 0.00013
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.145C>G (p.Pro49Ala) rs573085618 0.00009
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu) rs748944982 0.00009
NM_000161.3(GCH1):c.593G>A (p.Arg198Gln) rs201238926 0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 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.509+3A>G rs369661042 0.00008
NM_000161.3(GCH1):c.*1257C>T rs763425111 0.00007
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.*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.*1010C>T rs764569623 0.00004
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.509+19T>C rs374420051 0.00004
NM_000161.3(GCH1):c.510-19A>T rs778122258 0.00004
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser) rs104894436 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.542-19C>T rs201405174 0.00003
NM_000161.3(GCH1):c.*34C>T rs757193609 0.00002
NM_000161.3(GCH1):c.193G>C (p.Glu65Gln) rs1281386674 0.00002
NM_000161.3(GCH1):c.195G>A (p.Glu65=) rs139350456 0.00002
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu) rs527416949 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.662T>C (p.Met221Thr) rs104894434 0.00002
NM_000161.3(GCH1):c.737C>T (p.Thr246Ile) rs989328098 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.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.250G>C (p.Glu84Gln) rs755556239 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.334A>G (p.Thr112Ala) rs199990434 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.524A>T (p.Tyr175Phe) rs781250171 0.00001
NM_000161.3(GCH1):c.541+15T>C rs780398294 0.00001
NM_000161.3(GCH1):c.571G>A (p.Val191Ile) rs762208304 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.626+2dup rs1474519447 0.00001
NM_000161.3(GCH1):c.627-12C>T rs886050549 0.00001
NM_000161.3(GCH1):c.691T>C (p.Leu231=) rs915108762 0.00001
NC_000014.8:g.(?_55310492)_(55332164_?)dup
NC_000014.8:g.(?_55310735)_(55312590_?)dup
NC_000014.8:g.(?_55310735)_(55313868_?)del
NC_000014.8:g.(?_55310735)_(55326474_?)del
NC_000014.8:g.(?_55310735)_(55369403_?)del
NC_000014.8:g.(?_55312466)_(55313868_?)del
NC_000014.8:g.(?_55313807)_(55313858_?)del
NC_000014.8:g.(?_55326379)_(55332174_?)dup
NC_000014.8:g.(?_55332039)_(55369387_?)del
NC_000014.8:g.(?_55369019)_(55369381_?)del
NC_000014.9:g.(?_54859671)_(54865446_?)del
NC_000014.9:g.(?_54865307)_(54865456_?)del
NC_000014.9:g.(?_54865317)_(54865446_?)del
NC_000014.9:g.(?_54902311)_(54902702_?)del
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.*1907A>G rs886050542
NM_000161.3(GCH1):c.*243C>G rs841
NM_000161.3(GCH1):c.*278C>T rs756583192
NM_000161.3(GCH1):c.*507C>G rs886050547
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.*935A>C rs2039584676
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.127_130dup (p.Ala44fs) rs1595031524
NM_000161.3(GCH1):c.137G>A (p.Ser46Asn)
NM_000161.3(GCH1):c.138C>A (p.Ser46Arg)
NM_000161.3(GCH1):c.140C>A (p.Ala47Glu) rs2040584415
NM_000161.3(GCH1):c.140C>T (p.Ala47Val)
NM_000161.3(GCH1):c.141G>A (p.Ala47=)
NM_000161.3(GCH1):c.141G>T (p.Ala47=)
NM_000161.3(GCH1):c.142C>T (p.Gln48Ter) rs104894444
NM_000161.3(GCH1):c.145C>T (p.Pro49Ser)
NM_000161.3(GCH1):c.153C>A (p.Asp51Glu) rs745516526
NM_000161.3(GCH1):c.154G>A (p.Gly52Ser)
NM_000161.3(GCH1):c.154G>T (p.Gly52Cys)
NM_000161.3(GCH1):c.156C>T (p.Gly52=)
NM_000161.3(GCH1):c.158G>A (p.Trp53Ter) rs2140127425
NM_000161.3(GCH1):c.162G>A (p.Lys54=)
NM_000161.3(GCH1):c.163G>A (p.Gly55Ser) rs2140127419
NM_000161.3(GCH1):c.164G>A (p.Gly55Asp)
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.170G>A (p.Arg57Gln)
NM_000161.3(GCH1):c.172C>T (p.Pro58Ser) rs2040583643
NM_000161.3(GCH1):c.174C>T (p.Pro58=)
NM_000161.3(GCH1):c.175C>G (p.Arg59Gly)
NM_000161.3(GCH1):c.183G>A (p.Glu61=)
NM_000161.3(GCH1):c.185del (p.Glu62fs)
NM_000161.3(GCH1):c.186G>A (p.Glu62=)
NM_000161.3(GCH1):c.186G>T (p.Glu62Asp) rs752590798
NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) rs1555362845
NM_000161.3(GCH1):c.187G>A (p.Asp63Asn)
NM_000161.3(GCH1):c.192C>T (p.Asn64=) rs1486693649
NM_000161.3(GCH1):c.194A>T (p.Glu65Val) rs2140127337
NM_000161.3(GCH1):c.196C>T (p.Leu66=)
NM_000161.3(GCH1):c.197T>C (p.Leu66Pro) rs1042390728
NM_000161.3(GCH1):c.198G>C (p.Leu66=)
NM_000161.3(GCH1):c.202C>T (p.Leu68Phe)
NM_000161.3(GCH1):c.212T>C (p.Leu71Pro) rs1555362843
NM_000161.3(GCH1):c.212del (p.Leu71fs) rs2140127278
NM_000161.3(GCH1):c.215C>G (p.Ala72Gly)
NM_000161.3(GCH1):c.220_223del (p.Ala74fs) rs1566687321
NM_000161.3(GCH1):c.229_246del (p.Ser77_Leu82del) rs2140127202
NM_000161.3(GCH1):c.230C>G (p.Ser77Cys) rs748666093
NM_000161.3(GCH1):c.233del (p.Ile78fs)
NM_000161.3(GCH1):c.234C>T (p.Ile78=)
NM_000161.3(GCH1):c.235C>T (p.Leu79=)
NM_000161.3(GCH1):c.238A>T (p.Ser80Cys) rs2140127221
NM_000161.3(GCH1):c.241T>C (p.Ser81Pro) rs2140127208
NM_000161.3(GCH1):c.243G>T (p.Ser81=) rs557028351
NM_000161.3(GCH1):c.246G>C (p.Leu82=)
NM_000161.3(GCH1):c.248dup (p.Glu84fs) rs1595031221
NM_000161.3(GCH1):c.250G>T (p.Glu84Ter) rs755556239
NM_000161.3(GCH1):c.251A>G (p.Glu84Gly) rs1595031209
NM_000161.3(GCH1):c.252G>A (p.Glu84=) rs1263510185
NM_000161.3(GCH1):c.255C>T (p.Asn85=)
NM_000161.3(GCH1):c.257C>G (p.Pro86Arg) rs1555362836
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro) rs1595031190
NM_000161.3(GCH1):c.261G>T (p.Gln87His)
NM_000161.3(GCH1):c.262C>T (p.Arg88Trp) rs104894433
NM_000161.3(GCH1):c.266A>G (p.Gln89Arg) rs2140127145
NM_000161.3(GCH1):c.268G>A (p.Gly90Arg)
NM_000161.3(GCH1):c.270G>A (p.Gly90=)
NM_000161.3(GCH1):c.272T>A (p.Leu91Gln)
NM_000161.3(GCH1):c.273G>A (p.Leu91=)
NM_000161.3(GCH1):c.274C>T (p.Leu92Phe) rs763294577
NM_000161.3(GCH1):c.275T>C (p.Leu92Pro)
NM_000161.3(GCH1):c.278dup (p.Thr94fs) rs1555362835
NM_000161.3(GCH1):c.279G>T (p.Lys93Asn)
NM_000161.3(GCH1):c.280A>G (p.Thr94Ala)
NM_000161.3(GCH1):c.280A>T (p.Thr94Ser)
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys) rs1566687244
NM_000161.3(GCH1):c.281C>T (p.Thr94Met) rs1566687244
NM_000161.3(GCH1):c.287G>A (p.Trp96Ter)
NM_000161.3(GCH1):c.289A>T (p.Arg97Trp) rs2140127094
NM_000161.3(GCH1):c.293C>T (p.Ala98Val) rs2040580445
NM_000161.3(GCH1):c.295G>C (p.Ala99Pro) rs1566687219
NM_000161.3(GCH1):c.298T>C (p.Ser100Pro)
NM_000161.3(GCH1):c.300G>C (p.Ser100=)
NM_000161.3(GCH1):c.303C>T (p.Ala101=)
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.307C>T (p.Gln103Ter)
NM_000161.3(GCH1):c.321G>C (p.Lys107Asn) rs1375057499
NM_000161.3(GCH1):c.322G>A (p.Gly108Ser) rs2140127010
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
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+3C>T
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.344-1G>A rs1555360050
NM_000161.3(GCH1):c.344-1G>C rs1555360050
NM_000161.3(GCH1):c.344-2A>G rs2140074226
NM_000161.3(GCH1):c.344-3C>G rs2039977194
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.355G>A (p.Asp119Asn)
NM_000161.3(GCH1):c.360T>A (p.Ala120=)
NM_000161.3(GCH1):c.361A>G (p.Ile121Val)
NM_000161.3(GCH1):c.367G>A (p.Asp123Asn) rs2140074143
NM_000161.3(GCH1):c.369T>C (p.Asp123=)
NM_000161.3(GCH1):c.394G>A (p.Val132Met)
NM_000161.3(GCH1):c.395T>C (p.Val132Ala) rs1555360034
NM_000161.3(GCH1):c.395_396del (p.Val132fs) rs2140074097
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.401A>T (p.Asp134Val) rs104894437
NM_000161.3(GCH1):c.404T>A (p.Ile135Lys) rs104894441
NM_000161.3(GCH1):c.416C>T (p.Ser139Phe) rs144542994
NM_000161.3(GCH1):c.418A>G (p.Met140Val)
NM_000161.3(GCH1):c.420G>A (p.Met140Ile) rs1360081603
NM_000161.3(GCH1):c.423T>G (p.Cys141Trp) rs2140074056
NM_000161.3(GCH1):c.431A>C (p.His144Pro) rs104894440
NM_000161.3(GCH1):c.432C>T (p.His144=)
NM_000161.3(GCH1):c.435G>T (p.Leu145Phe) rs763677193
NM_000161.3(GCH1):c.439C>A (p.Pro147Thr)
NM_000161.3(GCH1):c.440C>T (p.Pro147Leu) rs1594989087
NM_000161.3(GCH1):c.440_453+9dup
NM_000161.3(GCH1):c.452A>G (p.Lys151Arg) rs2140073994
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.453+1G>A
NM_000161.3(GCH1):c.453+1G>C rs2140073990
NM_000161.3(GCH1):c.453+2T>G rs2140073988
NM_000161.3(GCH1):c.453+6G>T
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.454-2A>G rs2039866854
NM_000161.3(GCH1):c.458A>G (p.His153Arg)
NM_000161.3(GCH1):c.460A>G (p.Ile154Val)
NM_000161.3(GCH1):c.462T>G (p.Ile154Met) rs1566665914
NM_000161.3(GCH1):c.473del (p.Pro158fs) rs2039866628
NM_000161.3(GCH1):c.474T>C (p.Pro158=)
NM_000161.3(GCH1):c.476A>G (p.Asn159Ser)
NM_000161.3(GCH1):c.478A>T (p.Lys160Ter) rs2140063480
NM_000161.3(GCH1):c.480G>A (p.Lys160=)
NM_000161.3(GCH1):c.486C>A (p.Val162=)
NM_000161.3(GCH1):c.491G>C (p.Gly164Ala)
NM_000161.3(GCH1):c.493C>T (p.Leu165Phe)
NM_000161.3(GCH1):c.498C>T (p.Ser166=)
NM_000161.3(GCH1):c.506C>G (p.Ala169Gly)
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.508A>G (p.Arg170Gly) rs2039865673
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+1_509+3delinsTGTGAG rs1594982939
NM_000161.3(GCH1):c.509+20G>C
NM_000161.3(GCH1):c.509+2795T>A
NM_000161.3(GCH1):c.509+6T>C rs2140063307
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.510-1G>A rs1555358604
NM_000161.3(GCH1):c.510-1G>T rs1555358604
NM_000161.3(GCH1):c.510-8T>C rs2140043752
NM_000161.3(GCH1):c.510-9C>G
NM_000161.3(GCH1):c.514G>T (p.Val172Leu) rs1566660315
NM_000161.3(GCH1):c.525T>C (p.Tyr175=)
NM_000161.3(GCH1):c.532A>G (p.Arg178Gly) rs1594971274
NM_000161.3(GCH1):c.532A>T (p.Arg178Ter) rs1594971274
NM_000161.3(GCH1):c.532_537del (p.Arg178_Leu179del) rs2039654207
NM_000161.3(GCH1):c.539A>G (p.Gln180Arg) rs1566660298
NM_000161.3(GCH1):c.541+10A>G
NM_000161.3(GCH1):c.541+1G>C rs1555358599
NM_000161.3(GCH1):c.541+1G>T rs1555358599
NM_000161.3(GCH1):c.541G>A (p.Val181Ile)
NM_000161.3(GCH1):c.542-12T>C
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.544C>T (p.Gln182Ter)
NM_000161.3(GCH1):c.549G>A (p.Glu183=)
NM_000161.3(GCH1):c.550C>T (p.Arg184Cys) rs2140041841
NM_000161.3(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.3(GCH1):c.573A>G (p.Val191=)
NM_000161.3(GCH1):c.575C>T (p.Ala192Val)
NM_000161.3(GCH1):c.578T>A (p.Ile193Asn) rs2140041744
NM_000161.3(GCH1):c.578_583del (p.Ile193_Glu195delinsLys) rs2140041733
NM_000161.3(GCH1):c.581C>T (p.Thr194Met)
NM_000161.3(GCH1):c.591G>C (p.Leu197Phe)
NM_000161.3(GCH1):c.592C>T (p.Arg198Trp) rs752447862
NM_000161.3(GCH1):c.594G>T (p.Arg198=)
NM_000161.3(GCH1):c.596C>T (p.Pro199Leu) rs2140041686
NM_000161.3(GCH1):c.599C>G (p.Ala200Gly)
NM_000161.3(GCH1):c.601G>C (p.Gly201Arg)
NM_000161.3(GCH1):c.601G>T (p.Gly201Ter) rs2140041673
NM_000161.3(GCH1):c.602G>A (p.Gly201Glu) rs104894438
NM_000161.3(GCH1):c.606C>T (p.Val202=) rs1171007081
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg) rs988395114
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.615G>A (p.Val205=)
NM_000161.3(GCH1):c.617T>C (p.Val206Ala) rs773159175
NM_000161.3(GCH1):c.621A>T (p.Glu207Asp) rs2140041594
NM_000161.3(GCH1):c.626+17C>G rs2140041535
NM_000161.3(GCH1):c.626+18T>A
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.626+1G>T rs1555358507
NM_000161.3(GCH1):c.626+2T>C
NM_000161.3(GCH1):c.626+2_626+3insTT
NM_000161.3(GCH1):c.626+5G>A
NM_000161.3(GCH1):c.626+5G>C rs1594970015
NM_000161.3(GCH1):c.626+6T>G
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.626C>T (p.Thr209Ile) rs141634133
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.627-2A>G
NM_000161.3(GCH1):c.627-9_627-7del
NM_000161.3(GCH1):c.631A>G (p.Met211Val)
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.634T>C (p.Cys212Arg) rs2039604113
NM_000161.3(GCH1):c.635G>A (p.Cys212Tyr)
NM_000161.3(GCH1):c.641T>C (p.Val214Ala) rs2140038925
NM_000161.3(GCH1):c.642A>G (p.Val214=)
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440
NM_000161.3(GCH1):c.647G>C (p.Arg216Pro) rs2039603118
NM_000161.3(GCH1):c.649G>A (p.Gly217Ser)
NM_000161.3(GCH1):c.650G>T (p.Gly217Val) rs2039603046
NM_000161.3(GCH1):c.661A>G (p.Met221Val)
NM_000161.3(GCH1):c.666C>T (p.Asn222=)
NM_000161.3(GCH1):c.673del (p.Thr225fs) rs2140038846
NM_000161.3(GCH1):c.675T>A (p.Thr225=)
NM_000161.3(GCH1):c.676G>C (p.Val226Leu) rs2140038840
NM_000161.3(GCH1):c.677T>A (p.Val226Glu) rs776426317
NM_000161.3(GCH1):c.687A>G (p.Thr229=)
NM_000161.3(GCH1):c.689T>C (p.Met230Thr) rs2140038798
NM_000161.3(GCH1):c.694G>C (p.Gly232Arg)
NM_000161.3(GCH1):c.695G>A (p.Gly232Asp) rs2140038792
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln) rs1555358380
NM_000161.3(GCH1):c.705G>C (p.Arg235=)
NM_000161.3(GCH1):c.709G>A (p.Asp237Asn) rs2140038782
NM_000161.3(GCH1):c.712C>A (p.Pro238Thr) rs2140038781
NM_000161.3(GCH1):c.714A>T (p.Pro238=)
NM_000161.3(GCH1):c.721C>T (p.Arg241Trp)
NM_000161.3(GCH1):c.722G>A (p.Arg241Gln)
NM_000161.3(GCH1):c.724G>T (p.Glu242Ter) rs1296731359
NM_000161.3(GCH1):c.728dup (p.Phe244fs) rs2140038749
NM_000161.3(GCH1):c.732C>T (p.Phe244=) rs745929907
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000161.3(GCH1):c.747_748delinsCT (p.Arg249_Ser250delinsSerCys)
NM_000161.3(GCH1):c.750C>T (p.Ser250=)
NM_000161.3(GCH1):c.751T>C (p.Ter251Arg)
NM_000161.3(GCH1):c.752G>A (p.Ter251=)
NM_000161.3(GCH1):c.753A>C (p.Ter251Cys) rs1555358379

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