ClinVar Miner

List of variants reported as uncertain significance for AGAT deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.701A>G (p.Asp234Gly) rs146057680 0.00022
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_001482.3(GATM):c.-1G>A rs778453861 0.00010
NM_001482.3(GATM):c.61G>A (p.Gly21Arg) rs903485357 0.00005
NM_001482.3(GATM):c.1030A>G (p.Ile344Val) rs747608698 0.00004
NM_001482.3(GATM):c.1106G>A (p.Arg369His) rs747557239 0.00004
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.338A>G (p.His113Arg) rs910754475 0.00004
NM_001482.3(GATM):c.990C>G (p.Phe330Leu) rs770808654 0.00004
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.813+6C>T rs771050735 0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His) rs371447931 0.00002
NM_001482.3(GATM):c.859C>T (p.Pro287Ser) rs773358289 0.00002
NM_001482.3(GATM):c.104C>A (p.Thr35Asn) rs1331986925 0.00001
NM_001482.3(GATM):c.1186C>A (p.Arg396Ser) rs1183535332 0.00001
NM_001482.3(GATM):c.565C>T (p.Arg189Cys) rs377578020 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001482.3(GATM):c.625A>G (p.Lys209Glu) rs1393968087 0.00001
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) rs764877849 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.875A>G (p.His292Arg) rs747005297 0.00001
NM_001482.3(GATM):c.88G>A (p.Gly30Arg) rs1245821498 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg) rs749007953
NM_001482.3(GATM):c.1009A>G (p.Ile337Val) rs558560751
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.1099G>A (p.Glu367Lys)
NM_001482.3(GATM):c.1208G>A (p.Gly403Glu)
NM_001482.3(GATM):c.1220G>A (p.Cys407Tyr)
NM_001482.3(GATM):c.145T>C (p.Ser49Pro) rs796052537
NM_001482.3(GATM):c.161A>G (p.Asp54Gly)
NM_001482.3(GATM):c.166G>A (p.Ala56Thr)
NM_001482.3(GATM):c.167C>A (p.Ala56Asp)
NM_001482.3(GATM):c.172G>C (p.Glu58Gln)
NM_001482.3(GATM):c.223T>A (p.Leu75Ile)
NM_001482.3(GATM):c.232G>C (p.Val78Leu)
NM_001482.3(GATM):c.289-13C>T
NM_001482.3(GATM):c.297A>G (p.Thr99=) rs1445305823
NM_001482.3(GATM):c.361A>C (p.Lys121Gln)
NM_001482.3(GATM):c.371T>C (p.Val124Ala) rs1889503302
NM_001482.3(GATM):c.378A>T (p.Glu126Asp) rs1889503051
NM_001482.3(GATM):c.437C>G (p.Pro146Arg)
NM_001482.3(GATM):c.460A>G (p.Lys154Glu)
NM_001482.3(GATM):c.472T>C (p.Phe158Leu)
NM_001482.3(GATM):c.493A>G (p.Ser165Gly)
NM_001482.3(GATM):c.519A>G (p.Ile173Met) rs796052534
NM_001482.3(GATM):c.660T>G (p.Asp220Glu)
NM_001482.3(GATM):c.692C>A (p.Ser231Tyr)
NM_001482.3(GATM):c.715G>T (p.Ala239Ser)
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001482.3(GATM):c.754T>C (p.Cys252Arg)
NM_001482.3(GATM):c.782C>G (p.Ala261Gly)
NM_001482.3(GATM):c.862G>T (p.Asp288Tyr)
NM_001482.3(GATM):c.932T>C (p.Ile311Thr) rs1460902723
NM_001482.3(GATM):c.964C>A (p.Arg322=)
NM_001482.3(GATM):c.965G>A (p.Arg322Gln)

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