List of variants in gene GAMT reported as uncertain significance for Deficiency of guanidinoacetate methyltransferase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 84

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HGVS	dbSNP	gnomAD frequency
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)	rs147739199	0.00077
NM_000156.6(GAMT):c.*239C>T	rs550282678	0.00046
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)	rs150338273	0.00036
NM_000156.6(GAMT):c.570+161T>A	rs368296913	0.00035
NM_000156.6(GAMT):c.570+4C>T	rs199967562	0.00026
NM_000156.6(GAMT):c.328-10C>T	rs371511930	0.00019
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.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.670G>A (p.Ala224Thr)	rs141471799	0.00006
NM_000156.6(GAMT):c.511C>G (p.Leu171Val)	rs770110177	0.00005
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu)	rs368864187	0.00004
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu)	rs747656257	0.00004
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)	rs753228876	0.00004
NM_000156.6(GAMT):c.*116C>T	rs902990738	0.00003
NM_000156.6(GAMT):c.*292C>T	rs908073212	0.00003
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.460-7T>G	rs1200384623	0.00003
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr)	rs202199674	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.189G>C (p.Arg63=)	rs568392459	0.00002
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr)	rs749284008	0.00002
NM_000156.6(GAMT):c.225G>A (p.Ala75=)	rs202151546	0.00002
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe)	rs1300612017	0.00002
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)	rs758217156	0.00002
NM_000156.6(GAMT):c.493G>A (p.Val165Ile)	rs1050914	0.00002
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)	rs77168423	0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)	rs1441030187	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.317A>C (p.Gln106Pro)	rs145817990	0.00001
NM_000156.6(GAMT):c.327+5C>T	rs1489553949	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.372G>A (p.Leu124=)	rs748762855	0.00001
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser)	rs1131691930	0.00001
NM_000156.6(GAMT):c.438A>G (p.Thr146=)	rs80338733	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.668dup (p.Tyr223Ter)	rs781163821	0.00001
NM_000156.6(GAMT):c.689C>T (p.Thr230Met)	rs776537906	0.00001
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)	rs1401966018	0.00001
NM_000156.6(GAMT):c.*69G>A	rs577136428
NM_000156.6(GAMT):c.182-3_182dup	rs2082624287
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del)	rs750232484
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)	rs1569006974
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
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.315G>A (p.Arg105=)	rs559092619
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)
NM_000156.6(GAMT):c.392-9T>G	rs2082618862
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)
NM_000156.6(GAMT):c.459+9_459+12del	rs762239322
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.491G>A (p.Gly164Asp)	rs760101382
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)	rs202199674
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)	rs200444143
NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)
NM_000156.6(GAMT):c.570+5G>A	rs199678332
NM_000156.6(GAMT):c.570+5G>T	rs199678332
NM_000156.6(GAMT):c.571G>A (p.Glu191Lys)
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)	rs2082607477
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln)	rs139890971
NM_000156.6(GAMT):c.677C>T (p.Pro226Leu)	rs796052528
NM_000156.6(GAMT):c.702C>T (p.Thr234=)	rs1375010161

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