ClinVar Miner

List of variants studied for Deficiency of guanidinoacetate methyltransferase by Natera, Inc.

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_000156.6(GAMT):c.570+4C>T rs199967562 0.00039
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) rs150338273 0.00036
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) rs574164748 0.00024
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) rs776498025 0.00014
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.662G>A (p.Arg221His) rs766553422 0.00009
NM_000156.6(GAMT):c.201G>A (p.Val67=) rs745986528 0.00007
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) rs148838075 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp) rs757909053 0.00006
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) rs770110177 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu) rs368864187 0.00004
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876 0.00004
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.460-7T>G rs1200384623 0.00003
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr) rs202199674 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln) rs376499506 0.00003
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys) rs778279369 0.00003
NM_000156.6(GAMT):c.623G>A (p.Arg208His) rs767887772 0.00003
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu) rs139890971 0.00003
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp) rs777102623 0.00002
NM_000156.6(GAMT):c.211A>G (p.Met71Val) rs372027428 0.00002
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) rs749284008 0.00002
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) rs570476209 0.00002
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe) rs1300612017 0.00002
NM_000156.6(GAMT):c.41A>G (p.Glu14Gly) rs1223870636 0.00002
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys) rs758217156 0.00002
NM_000156.6(GAMT):c.486G>A (p.Pro162=) rs368650653 0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) rs1050914 0.00002
NM_000156.6(GAMT):c.179A>G (p.Lys60Arg) rs1228556317 0.00001
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423 0.00001
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) rs761687649 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.25A>G (p.Ile9Val) rs1555777381 0.00001
NM_000156.6(GAMT):c.282C>T (p.Gly94=) rs771191011 0.00001
NM_000156.6(GAMT):c.283G>A (p.Val95Ile) rs140778208 0.00001
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) rs200052696 0.00001
NM_000156.6(GAMT):c.327+5C>T rs1489553949 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg) rs765281181 0.00001
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala) rs771827261 0.00001
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) rs374724533 0.00001
NM_000156.6(GAMT):c.414A>G (p.Pro138=) rs1376380710 0.00001
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys) rs751570656 0.00001
NM_000156.6(GAMT):c.473G>A (p.Arg158His) rs750195151 0.00001
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu) rs757108273 0.00001
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr) rs1421013354 0.00001
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala) rs1285848023 0.00001
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr) rs1355291180 0.00001
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser) rs540554423 0.00001
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp) rs746633494 0.00001
NM_000156.6(GAMT):c.638C>T (p.Ala213Val) rs761535571 0.00001
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr) rs886054248 0.00001
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter) rs781163821 0.00001
NM_000156.6(GAMT):c.689C>T (p.Thr230Met) rs776537906 0.00001
NM_000156.6(GAMT):c.68C>T (p.Ala23Val) rs796052530 0.00001
NM_000156.6(GAMT):c.106A>G (p.Ile36Val) rs2082632903
NM_000156.6(GAMT):c.11_36dup (p.Gly13fs) rs1460147564
NM_000156.6(GAMT):c.124A>G (p.Met42Val) rs536055494
NM_000156.6(GAMT):c.165C>A (p.Ala55=) rs767100879
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup) rs768895098
NM_000156.6(GAMT):c.17C>T (p.Ala6Val) rs796052529
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) rs750232484
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser) rs774689819
NM_000156.6(GAMT):c.291G>T (p.Gln97His) rs796052524
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.391+47A>G rs73515058
NM_000156.6(GAMT):c.392-9T>G rs2082618862
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) rs748256259
NM_000156.6(GAMT):c.463C>G (p.His155Asp) rs1374777721
NM_000156.6(GAMT):c.46T>G (p.Cys16Gly) rs2082633520
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) rs202199674
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu) rs200444143
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) rs796052525
NM_000156.6(GAMT):c.570+5G>A rs199678332
NM_000156.6(GAMT):c.570+5G>T rs199678332
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) rs139890971
NM_000156.6(GAMT):c.702C>T (p.Thr234=) rs1375010161

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