ClinVar Miner

List of variants studied for Fanconi renotubular syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
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.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_001482.3(GATM):c.801A>C (p.Ala267=) rs371507418 0.00012
NM_001482.3(GATM):c.-1G>A rs778453861 0.00010
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.979-19G>T rs575171738 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.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.294C>T (p.Asn98=) rs1271594468 0.00001
NM_001482.3(GATM):c.48G>T (p.Ala16=) rs587780951 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.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.9G>A (p.Arg3=) rs1471775361 0.00001
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.1159+19A>G rs187979088
NM_001482.3(GATM):c.139C>G (p.Arg47Gly)
NM_001482.3(GATM):c.259T>C (p.Cys87Arg) rs2140657166
NM_001482.3(GATM):c.576G>A (p.Glu192=) rs759135975
NM_001482.3(GATM):c.684C>T (p.Pro228=) rs1251849022
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001482.3(GATM):c.814-17C>G rs368314780
NM_001482.3(GATM):c.930C>T (p.Ile310=) rs2140641456
NM_001482.3(GATM):c.941G>A (p.Gly314Asp)
NM_001482.3(GATM):c.958C>T (p.Pro320Ser) rs1889443535
NM_001482.3(GATM):c.965G>C (p.Arg322Pro) rs1325460408
NM_001482.3(GATM):c.979-18dup rs202176047
NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs) rs1553775828

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