ClinVar Miner

List of variants in gene GATM studied for Fanconi renotubular syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.56264
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001482.3(GATM):c.484+19C>T rs374556262 0.00026
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.801A>C (p.Ala267=) rs371507418 0.00012
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.979-19G>T rs575171738 0.00004
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_001482.3(GATM):c.338A>G (p.His113Arg) rs910754475 0.00003
NM_001482.3(GATM):c.990C>G (p.Phe330Leu) rs770808654 0.00003
NM_001482.3(GATM):c.1009A>G (p.Ile337Val) rs558560751 0.00002
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 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.1231G>A (p.Asp411Asn) rs768171759 0.00001
NM_001482.3(GATM):c.1257G>A (p.Gln419=) rs774881489 0.00001
NM_001482.3(GATM):c.138C>T (p.Ser46=) rs1012951622 0.00001
NM_001482.3(GATM):c.223T>A (p.Leu75Ile) rs1204057066 0.00001
NM_001482.3(GATM):c.232G>C (p.Val78Leu) rs1333483024 0.00001
NM_001482.3(GATM):c.505C>T (p.Arg169Ter) rs397514708 0.00001
NM_001482.3(GATM):c.540C>T (p.Ile180=) rs758473036 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.625A>G (p.Lys209Glu) rs1393968087 0.00001
NM_001482.3(GATM):c.710A>G (p.Lys237Arg) rs764877849 0.00001
NM_001482.3(GATM):c.715G>T (p.Ala239Ser) rs2541989180 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.813+6C>T rs771050735 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.932T>C (p.Ile311Thr) rs1460902723 0.00001
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg) rs749007953
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala) rs1889422994
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile) rs1481334244
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001482.3(GATM):c.1042+4T>C rs1191624574
NM_001482.3(GATM):c.1084G>C (p.Val362Leu) rs2541984159
NM_001482.3(GATM):c.1099G>A (p.Glu367Lys)
NM_001482.3(GATM):c.1159+19A>G rs187979088
NM_001482.3(GATM):c.1208G>A (p.Gly403Glu)
NM_001482.3(GATM):c.1220G>A (p.Cys407Tyr)
NM_001482.3(GATM):c.139C>G (p.Arg47Gly) rs749075034
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) rs752102323
NM_001482.3(GATM):c.172G>C (p.Glu58Gln)
NM_001482.3(GATM):c.217_250dup (p.Glu84fs)
NM_001482.3(GATM):c.259T>C (p.Cys87Arg) rs2140657166
NM_001482.3(GATM):c.289-13C>T
NM_001482.3(GATM):c.294C>T (p.Asn98=) rs1271594468
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) rs1889500330
NM_001482.3(GATM):c.472T>C (p.Phe158Leu) rs2541993996
NM_001482.3(GATM):c.484+1G>T rs80338738
NM_001482.3(GATM):c.493A>G (p.Ser165Gly)
NM_001482.3(GATM):c.519A>G (p.Ile173Met) rs796052534
NM_001482.3(GATM):c.576G>A (p.Glu192=) rs759135975
NM_001482.3(GATM):c.660T>G (p.Asp220Glu)
NM_001482.3(GATM):c.684C>T (p.Pro228=) rs1251849022
NM_001482.3(GATM):c.692C>A (p.Ser231Tyr) rs202225656
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.814-17C>G rs368314780
NM_001482.3(GATM):c.842T>G (p.Met281Arg)
NM_001482.3(GATM):c.862G>T (p.Asp288Tyr)
NM_001482.3(GATM):c.930C>T (p.Ile310=) rs2140641456
NM_001482.3(GATM):c.941G>A (p.Gly314Asp) rs1889443912
NM_001482.3(GATM):c.958C>T (p.Pro320Ser) rs1889443535
NM_001482.3(GATM):c.964C>A (p.Arg322=) rs748841641
NM_001482.3(GATM):c.965G>A (p.Arg322Gln)
NM_001482.3(GATM):c.965G>C (p.Arg322Pro) rs1325460408
NM_001482.3(GATM):c.979-18dup rs202176047

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