ClinVar Miner

List of variants in gene GAMT reported by Ambry Genetics

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619 0.00133
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000156.6(GAMT):c.570+4C>T rs199967562 0.00026
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) rs141066224 0.00013
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) rs201029006 0.00011
NM_000156.6(GAMT):c.242C>T (p.Ala81Val) rs751099274 0.00009
NM_000156.6(GAMT):c.587C>T (p.Ala196Val) rs565109128 0.00009
NM_000156.6(GAMT):c.662G>A (p.Arg221His) rs766553422 0.00009
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000156.6(GAMT):c.585C>T (p.Pro195=) rs371024035 0.00004
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876 0.00004
NM_000156.6(GAMT):c.211A>G (p.Met71Val) rs372027428 0.00003
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) rs765070826 0.00003
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) rs552210450 0.00003
NM_000156.6(GAMT):c.623G>A (p.Arg208His) rs767887772 0.00003
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459 0.00002
NM_000156.6(GAMT):c.217A>G (p.Ile73Val) rs771107085 0.00002
NM_000156.6(GAMT):c.219C>T (p.Ile73=) rs1417220310 0.00002
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546 0.00002
NM_000156.6(GAMT):c.344G>A (p.Gly115Asp) rs750625814 0.00002
NM_000156.6(GAMT):c.384C>T (p.His128=) rs1310922766 0.00001
NM_000156.6(GAMT):c.414A>G (p.Pro138=) rs1376380710 0.00001
NM_000156.6(GAMT):c.464A>T (p.His155Leu) rs1308730662 0.00001
NM_000156.6(GAMT):c.654C>T (p.Ala218=) rs561375487 0.00001
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.427A>T (p.Thr143Ser)
NM_000156.6(GAMT):c.442C>T (p.Gln148Ter)
NM_000156.6(GAMT):c.465C>T (p.His155=) rs1454250040
NM_000156.6(GAMT):c.466G>A (p.Ala156Thr)
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.522G>T (p.Trp174Cys)
NM_000156.6(GAMT):c.529C>T (p.Leu177=) rs750356640
NM_000156.6(GAMT):c.570+46G>A
NM_000156.6(GAMT):c.570+5G>A rs199678332
NM_000156.6(GAMT):c.593T>G (p.Leu198Arg)
NM_000156.6(GAMT):c.598G>C (p.Ala200Pro)
NM_000156.6(GAMT):c.629A>T (p.Glu210Val)
NM_000156.6(GAMT):c.635T>A (p.Met212Lys)
NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)

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