ClinVar Miner

List of variants in gene AMT reported as pathogenic for inborn disorder of serine family metabolism

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000481.4(AMT):c.248A>G (p.His83Arg) rs1467607949 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.317T>C (p.Ile106Thr) rs1249645541 0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His) rs562695274 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 0.00001
NM_000481.4(AMT):c.847C>T (p.Pro283Ser) rs771214835 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000481.4(AMT):c.996dup (p.His333fs) rs2049025668 0.00001
NC_000003.11:g.(?_49454201)_(49457785_?)del
NC_000003.11:g.(?_49454973)_(49456604_?)del
NM_000481.4(AMT):c.1033+1G>A
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000481.4(AMT):c.1033+2T>C rs1553638247
NM_000481.4(AMT):c.1040dup (p.Thr348fs)
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1079_1080del (p.Val360fs)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer) rs2049020585
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.164G>A (p.Trp55Ter) rs1559530507
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.168_171del (p.Leu57fs) rs2107937574
NM_000481.4(AMT):c.178C>T (p.Gln60Ter) rs2107937536
NM_000481.4(AMT):c.221del (p.Gln74fs) rs2107937370
NM_000481.4(AMT):c.224del (p.His75fs) rs2107937352
NM_000481.4(AMT):c.236_237del (p.Leu78_Phe79insTer)
NM_000481.4(AMT):c.250_251del (p.Met84fs)
NM_000481.4(AMT):c.256C>T (p.Gln86Ter) rs1575308888
NM_000481.4(AMT):c.257dup (p.Thr87fs) rs2107937267
NM_000481.4(AMT):c.259-2A>C rs748522054
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.534_535dup (p.Leu179fs)
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_000481.4(AMT):c.609dup (p.Phe204fs) rs2107932226
NM_000481.4(AMT):c.645_646del (p.Ser216fs)
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)
NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)
NM_000481.4(AMT):c.714_724del (p.Gly239fs)
NM_000481.4(AMT):c.734_735del (p.Thr245fs) rs2049052992
NM_000481.4(AMT):c.757del (p.Glu252_Val253insTer)
NM_000481.4(AMT):c.771del (p.Leu258fs)
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000481.4(AMT):c.815dup (p.Tyr273fs)
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter) rs2107931458
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)
NM_000481.4(AMT):c.965_966del (p.Gly322fs)
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067
NM_000481.4(AMT):c.999_1000del (p.His333fs)
NM_001164710.2(AMT):c.340-552del rs2107933839

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