ClinVar Miner

List of variants in gene AMT reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
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.887G>A (p.Arg296His) rs386833690 0.00003
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.339+1G>A rs1575308129 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.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 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_000003.12:g.(?_49419700)_(49419798_?)dup
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr) rs768293167
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
NM_000481.4(AMT):c.139G>T (p.Gly47Trp) rs121964982
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.148del (p.Val50fs) rs386833678
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
NM_000481.4(AMT):c.230C>A (p.Ser77Ter) rs386833680
NM_000481.4(AMT):c.248A>C (p.His83Pro)
NM_000481.4(AMT):c.258+1G>A
NM_000481.4(AMT):c.259-1G>C rs386833681
NM_000481.4(AMT):c.259-2A>T
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
NM_000481.4(AMT):c.293T>G (p.Met98Arg) rs2107935989
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.339+2T>C
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs) rs2107933735
NM_000481.4(AMT):c.383del (p.Asp128fs) rs2107933731
NM_000481.4(AMT):c.419dup (p.Tyr141fs)
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
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.471+2_471+7del
NM_000481.4(AMT):c.472-2A>T rs2107932966
NM_000481.4(AMT):c.535del (p.Leu179fs) rs386833685
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.657dup (p.Val220fs) rs2049058298
NM_000481.4(AMT):c.664C>A (p.Arg222Ser) rs781466698
NM_000481.4(AMT):c.665G>T (p.Arg222Leu) rs562695274
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.695_696+21del rs1553638457
NM_000481.4(AMT):c.696+1G>A rs1553638460
NM_000481.4(AMT):c.696+2T>A rs541594122
NM_000481.4(AMT):c.696G>A (p.Glu232=) rs1352631535
NM_000481.4(AMT):c.697-1G>A
NM_000481.4(AMT):c.697-2A>C
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.877+5G>A
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.887G>T (p.Arg296Leu) rs386833690
NM_000481.4(AMT):c.91-2A>G
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
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.991C>T (p.Arg331Trp)
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067

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