ClinVar Miner

List of variants in gene GAMT, LOC130062945 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000156.6(GAMT):c.-78C>T rs886054249 0.00043
NM_000156.6(GAMT):c.-79G>A rs966975299 0.00043
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) rs574164748 0.00024
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) rs776498025 0.00014
NM_000156.6(GAMT):c.36C>T (p.Pro12=) rs760278546 0.00009
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000156.6(GAMT):c.8C>T (p.Ala3Val) rs1467893087 0.00004
NM_000156.6(GAMT):c.167C>T (p.Ala56Val) rs575350720 0.00003
NM_000156.6(GAMT):c.36C>G (p.Pro12=) rs760278546 0.00003
NM_000156.6(GAMT):c.42G>C (p.Glu14Asp) rs775018136 0.00003
NM_000156.6(GAMT):c.9C>T (p.Ala3=) rs1048753323 0.00003
NM_000156.6(GAMT):c.102G>T (p.Leu34=) rs780224925 0.00002
NM_000156.6(GAMT):c.105C>T (p.Arg35=) rs758387003 0.00002
NM_000156.6(GAMT):c.118C>T (p.Pro40Ser) rs11551914 0.00002
NM_000156.6(GAMT):c.16G>A (p.Ala6Thr) rs1176129507 0.00002
NM_000156.6(GAMT):c.181+16C>A rs776931007 0.00002
NM_000156.6(GAMT):c.41A>G (p.Glu14Gly) rs1223870636 0.00002
NM_000156.6(GAMT):c.54C>T (p.Pro18=) rs960874258 0.00002
NM_000156.6(GAMT):c.114C>T (p.Gly38=) rs2082632873 0.00001
NM_000156.6(GAMT):c.145del (p.Tyr49fs) rs1384688313 0.00001
NM_000156.6(GAMT):c.151C>G (p.His51Asp) rs1131691409 0.00001
NM_000156.6(GAMT):c.152A>T (p.His51Leu) rs1473896815 0.00001
NM_000156.6(GAMT):c.153C>T (p.His51=) rs760366501 0.00001
NM_000156.6(GAMT):c.154G>A (p.Ala52Thr) rs1010921007 0.00001
NM_000156.6(GAMT):c.179A>G (p.Lys60Arg) rs1228556317 0.00001
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) rs761687649 0.00001
NM_000156.6(GAMT):c.25A>G (p.Ile9Val) rs1555777381 0.00001
NM_000156.6(GAMT):c.26T>A (p.Ile9Asn) rs2082633745 0.00001
NM_000156.6(GAMT):c.38G>C (p.Gly13Ala) rs1600160699 0.00001
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr) rs886054248 0.00001
NM_000156.6(GAMT):c.68C>T (p.Ala23Val) rs796052530 0.00001
NM_000156.6(GAMT):c.100C>T (p.Leu34=) rs2144641175
NM_000156.6(GAMT):c.106A>G (p.Ile36Val) rs2082632903
NM_000156.6(GAMT):c.108C>T (p.Ile36=) rs2144641154
NM_000156.6(GAMT):c.10C>T (p.Pro4Ser)
NM_000156.6(GAMT):c.112G>A (p.Gly38Ser)
NM_000156.6(GAMT):c.113dup (p.Lys39fs)
NM_000156.6(GAMT):c.115A>C (p.Lys39Gln) rs2144641138
NM_000156.6(GAMT):c.115A>G (p.Lys39Glu)
NM_000156.6(GAMT):c.119C>G (p.Pro40Arg)
NM_000156.6(GAMT):c.119C>T (p.Pro40Leu) rs1222736128
NM_000156.6(GAMT):c.11C>G (p.Pro4Arg) rs587780949
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
NM_000156.6(GAMT):c.11_36dup (p.Gly13fs) rs1460147564
NM_000156.6(GAMT):c.120G>A (p.Pro40=) rs2144641123
NM_000156.6(GAMT):c.122T>C (p.Val41Ala) rs1569008901
NM_000156.6(GAMT):c.124A>G (p.Met42Val) rs536055494
NM_000156.6(GAMT):c.127G>C (p.Glu43Gln) rs765081198
NM_000156.6(GAMT):c.128_135dup (p.Glu46fs)
NM_000156.6(GAMT):c.130C>G (p.Arg44Gly)
NM_000156.6(GAMT):c.131G>A (p.Arg44His)
NM_000156.6(GAMT):c.131G>C (p.Arg44Pro) rs200339910
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
NM_000156.6(GAMT):c.138G>A (p.Glu46=) rs2082632667
NM_000156.6(GAMT):c.140C>T (p.Thr47Ile) rs886054246
NM_000156.6(GAMT):c.141C>A (p.Thr47=) rs1442811967
NM_000156.6(GAMT):c.141C>G (p.Thr47=) rs1442811967
NM_000156.6(GAMT):c.144C>T (p.Pro48=)
NM_000156.6(GAMT):c.144del (p.Tyr49fs)
NM_000156.6(GAMT):c.144dup (p.Tyr49fs) rs2082632611
NM_000156.6(GAMT):c.147T>C (p.Tyr49=) rs2144641018
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) rs104894694
NM_000156.6(GAMT):c.148_149dup (p.Met50fs)
NM_000156.6(GAMT):c.150G>A (p.Met50Ile) rs1569008795
NM_000156.6(GAMT):c.152A>C (p.His51Pro)
NM_000156.6(GAMT):c.154G>T (p.Ala52Ser)
NM_000156.6(GAMT):c.155C>G (p.Ala52Gly)
NM_000156.6(GAMT):c.156G>A (p.Ala52=) rs1447391161
NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)
NM_000156.6(GAMT):c.158_181+7del rs2144640849
NM_000156.6(GAMT):c.160G>C (p.Ala54Pro)
NM_000156.6(GAMT):c.162C>G (p.Ala54=) rs2082632327
NM_000156.6(GAMT):c.162C>T (p.Ala54=) rs2082632327
NM_000156.6(GAMT):c.163_181+6del rs2144640856
NM_000156.6(GAMT):c.164_171del (p.Ala55fs) rs2144640900
NM_000156.6(GAMT):c.165C>A (p.Ala55=) rs767100879
NM_000156.6(GAMT):c.165C>T (p.Ala55=) rs767100879
NM_000156.6(GAMT):c.166G>A (p.Ala56Thr)
NM_000156.6(GAMT):c.168C>T (p.Ala56=)
NM_000156.6(GAMT):c.170C>A (p.Ala57Asp)
NM_000156.6(GAMT):c.170C>T (p.Ala57Val) rs2082632221
NM_000156.6(GAMT):c.171C>G (p.Ala57=) rs1359387431
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup) rs768895098
NM_000156.6(GAMT):c.179A>C (p.Lys60Thr) rs1228556317
NM_000156.6(GAMT):c.17C>T (p.Ala6Val) rs796052529
NM_000156.6(GAMT):c.181+10G>A
NM_000156.6(GAMT):c.181+10G>C rs1555777328
NM_000156.6(GAMT):c.181+12C>T
NM_000156.6(GAMT):c.181+13C>G
NM_000156.6(GAMT):c.181+16C>T rs776931007
NM_000156.6(GAMT):c.181+2T>C rs2144640859
NM_000156.6(GAMT):c.181+7C>T rs2144640848
NM_000156.6(GAMT):c.181+8C>T
NM_000156.6(GAMT):c.181+9C>G rs762178903
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg) rs1300512258
NM_000156.6(GAMT):c.18G>A (p.Ala6=)
NM_000156.6(GAMT):c.1A>G (p.Met1Val) rs796052527
NM_000156.6(GAMT):c.21C>A (p.Thr7=)
NM_000156.6(GAMT):c.24C>A (p.Pro8=) rs2144641443
NM_000156.6(GAMT):c.24del (p.Ile9fs) rs967689898
NM_000156.6(GAMT):c.27C>T (p.Ile9=) rs2144641431
NM_000156.6(GAMT):c.2T>C (p.Met1Thr) rs2144641532
NM_000156.6(GAMT):c.30C>G (p.Phe10Leu) rs2144641422
NM_000156.6(GAMT):c.33G>A (p.Ala11=) rs763777192
NM_000156.6(GAMT):c.33G>T (p.Ala11=) rs763777192
NM_000156.6(GAMT):c.37G>T (p.Gly13Cys)
NM_000156.6(GAMT):c.39C>A (p.Gly13=) rs1262796024
NM_000156.6(GAMT):c.39C>G (p.Gly13=)
NM_000156.6(GAMT):c.39C>T (p.Gly13=) rs1262796024
NM_000156.6(GAMT):c.3G>A (p.Met1Ile) rs2082634017
NM_000156.6(GAMT):c.42G>A (p.Glu14=) rs775018136
NM_000156.6(GAMT):c.45C>T (p.Asn15=)
NM_000156.6(GAMT):c.46T>G (p.Cys16Gly) rs2082633520
NM_000156.6(GAMT):c.48C>A (p.Cys16Ter)
NM_000156.6(GAMT):c.50del (p.Ser17fs)
NM_000156.6(GAMT):c.51C>T (p.Ser17=) rs1600160670
NM_000156.6(GAMT):c.53C>T (p.Pro18Leu) rs2144641340
NM_000156.6(GAMT):c.54C>G (p.Pro18=)
NM_000156.6(GAMT):c.58dup (p.Trp20fs)
NM_000156.6(GAMT):c.59G>A (p.Trp20Ter) rs80338734
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu) rs80338734
NM_000156.6(GAMT):c.60G>A (p.Trp20Ter)
NM_000156.6(GAMT):c.64del (p.Ala22fs) rs1569009071
NM_000156.6(GAMT):c.64dup (p.Ala22fs) rs1569009071
NM_000156.6(GAMT):c.65del (p.Ala22fs)
NM_000156.6(GAMT):c.66G>T (p.Ala22=)
NM_000156.6(GAMT):c.69G>C (p.Ala23=)
NM_000156.6(GAMT):c.6C>T (p.Ser2=)
NM_000156.6(GAMT):c.72C>A (p.Pro24=)
NM_000156.6(GAMT):c.81C>T (p.Tyr27=)
NM_000156.6(GAMT):c.82dup (p.Asp28fs)
NM_000156.6(GAMT):c.85G>A (p.Ala29Thr) rs2082633095
NM_000156.6(GAMT):c.87A>T (p.Ala29=) rs1242704513
NM_000156.6(GAMT):c.89C>T (p.Ala30Val)
NM_000156.6(GAMT):c.90G>A (p.Ala30=) rs2144641210
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_000156.6(GAMT):c.96G>A (p.Thr32=) rs1293967229

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