ClinVar Miner

List of variants reported as uncertain significance for Dystonia 5; GTP cyclohydrolase I deficiency by Invitae

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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000161.3(GCH1):c.453+6G>A rs766668821 0.00013
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.509+3A>G rs369661042 0.00008
NM_000161.3(GCH1):c.193G>C (p.Glu65Gln) rs1281386674 0.00002
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu) rs527416949 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.83C>T (p.Pro28Leu) rs774568081 0.00002
NM_000161.3(GCH1):c.89C>G (p.Pro30Arg) rs1477733062 0.00002
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr) rs529381971 0.00001
NM_000161.3(GCH1):c.250G>C (p.Glu84Gln) rs755556239 0.00001
NM_000161.3(GCH1):c.334A>G (p.Thr112Ala) rs199990434 0.00001
NM_000161.3(GCH1):c.524A>T (p.Tyr175Phe) rs781250171 0.00001
NM_000161.3(GCH1):c.571G>A (p.Val191Ile) rs762208304 0.00001
NM_000161.3(GCH1):c.59A>G (p.Asn20Ser) rs2040586742 0.00001
NC_000014.8:g.(?_55310492)_(55332164_?)dup
NC_000014.8:g.(?_55326389)_(55369420_?)dup
NM_000161.3(GCH1):c.10G>A (p.Gly4Ser)
NM_000161.3(GCH1):c.115C>A (p.Pro39Thr) rs770932357
NM_000161.3(GCH1):c.119C>G (p.Pro40Arg) rs995999325
NM_000161.3(GCH1):c.11G>A (p.Gly4Asp) rs2140127797
NM_000161.3(GCH1):c.137G>A (p.Ser46Asn)
NM_000161.3(GCH1):c.138C>A (p.Ser46Arg)
NM_000161.3(GCH1):c.13C>G (p.Pro5Ala) rs2040587976
NM_000161.3(GCH1):c.140C>A (p.Ala47Glu) rs2040584415
NM_000161.3(GCH1):c.140C>T (p.Ala47Val)
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.163G>A (p.Gly55Ser) rs2140127419
NM_000161.3(GCH1):c.164G>A (p.Gly55Asp)
NM_000161.3(GCH1):c.16G>T (p.Val6Leu) rs1413964407
NM_000161.3(GCH1):c.170G>A (p.Arg57Gln)
NM_000161.3(GCH1):c.172C>T (p.Pro58Ser) rs2040583643
NM_000161.3(GCH1):c.175C>G (p.Arg59Gly)
NM_000161.3(GCH1):c.186G>T (p.Glu62Asp) rs752590798
NM_000161.3(GCH1):c.187G>A (p.Asp63Asn)
NM_000161.3(GCH1):c.194A>T (p.Glu65Val) rs2140127337
NM_000161.3(GCH1):c.197T>C (p.Leu66Pro) rs1042390728
NM_000161.3(GCH1):c.202C>T (p.Leu68Phe)
NM_000161.3(GCH1):c.215C>G (p.Ala72Gly)
NM_000161.3(GCH1):c.229_246del (p.Ser77_Leu82del) rs2140127202
NM_000161.3(GCH1):c.22G>C (p.Ala8Pro) rs529381971
NM_000161.3(GCH1):c.22G>T (p.Ala8Ser) rs529381971
NM_000161.3(GCH1):c.230C>G (p.Ser77Cys) rs748666093
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.257C>G (p.Pro86Arg) rs1555362836
NM_000161.3(GCH1):c.25C>T (p.Pro9Ser)
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro) rs1595031190
NM_000161.3(GCH1):c.261G>T (p.Gln87His)
NM_000161.3(GCH1):c.266A>G (p.Gln89Arg) rs2140127145
NM_000161.3(GCH1):c.279G>T (p.Lys93Asn)
NM_000161.3(GCH1):c.280A>G (p.Thr94Ala)
NM_000161.3(GCH1):c.289A>T (p.Arg97Trp) rs2140127094
NM_000161.3(GCH1):c.295G>C (p.Ala99Pro) rs1566687219
NM_000161.3(GCH1):c.298T>C (p.Ser100Pro)
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.321G>C (p.Lys107Asn) rs1375057499
NM_000161.3(GCH1):c.343+3C>T
NM_000161.3(GCH1):c.344-3C>G rs2039977194
NM_000161.3(GCH1):c.355G>A (p.Asp119Asn)
NM_000161.3(GCH1):c.361A>G (p.Ile121Val)
NM_000161.3(GCH1):c.367G>A (p.Asp123Asn) rs2140074143
NM_000161.3(GCH1):c.394G>A (p.Val132Met)
NM_000161.3(GCH1):c.395T>C (p.Val132Ala) rs1555360034
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.435G>T (p.Leu145Phe) rs763677193
NM_000161.3(GCH1):c.439C>A (p.Pro147Thr)
NM_000161.3(GCH1):c.43G>A (p.Gly15Ser)
NM_000161.3(GCH1):c.440C>T (p.Pro147Leu) rs1594989087
NM_000161.3(GCH1):c.452A>G (p.Lys151Arg) rs2140073994
NM_000161.3(GCH1):c.453+6G>T
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.476A>G (p.Asn159Ser)
NM_000161.3(GCH1):c.491G>C (p.Gly164Ala)
NM_000161.3(GCH1):c.493C>T (p.Leu165Phe)
NM_000161.3(GCH1):c.506C>G (p.Ala169Gly)
NM_000161.3(GCH1):c.508A>G (p.Arg170Gly) rs2039865673
NM_000161.3(GCH1):c.509+6T>C rs2140063307
NM_000161.3(GCH1):c.514G>T (p.Val172Leu) rs1566660315
NM_000161.3(GCH1):c.541G>A (p.Val181Ile)
NM_000161.3(GCH1):c.542-12T>C
NM_000161.3(GCH1):c.575C>T (p.Ala192Val)
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.596C>T (p.Pro199Leu) rs2140041686
NM_000161.3(GCH1):c.599C>G (p.Ala200Gly)
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+5G>A
NM_000161.3(GCH1):c.626+5G>C rs1594970015
NM_000161.3(GCH1):c.626+6T>G
NM_000161.3(GCH1):c.626C>T (p.Thr209Ile) rs141634133
NM_000161.3(GCH1):c.627-2A>G
NM_000161.3(GCH1):c.627-9_627-7del
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.647G>C (p.Arg216Pro) rs2039603118
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.676G>C (p.Val226Leu) rs2140038840
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.709G>A (p.Asp237Asn) rs2140038782
NM_000161.3(GCH1):c.712C>A (p.Pro238Thr) rs2140038781
NM_000161.3(GCH1):c.721C>T (p.Arg241Trp)
NM_000161.3(GCH1):c.724G>T (p.Glu242Ter) rs1296731359
NM_000161.3(GCH1):c.73C>T (p.Arg25Trp)
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.753A>C (p.Ter251Cys) rs1555358379
NM_000161.3(GCH1):c.82C>T (p.Pro28Ser)
NM_000161.3(GCH1):c.91G>C (p.Gly31Arg)
NM_000161.3(GCH1):c.97A>T (p.Ser33Cys) rs1373130817

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