ClinVar Miner

List of variants studied for Glycogen storage disease type III by Illumina Laboratory Services, Illumina

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000642.3(AGL):c.*732C>T rs3766600 0.61998
NM_000642.3(AGL):c.2001+8T>C rs3736296 0.51611
NM_000642.3(AGL):c.*1028C>T rs3766601 0.47451
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000642.3(AGL):c.*1541T>C rs3766603 0.40438
NM_000642.3(AGL):c.*1296A>C rs1804809 0.37745
NM_000642.3(AGL):c.*272G>T rs1804808 0.32438
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307 0.05621
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.02082
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01517
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01398
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252 0.01347
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01311
NM_000642.3(AGL):c.*739A>G rs41285742 0.01299
NM_000642.3(AGL):c.*575G>T rs60880558 0.01050
NM_000642.3(AGL):c.*1244T>A rs72963791 0.01047
NM_000642.3(AGL):c.*2058G>A rs12117747 0.00930
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000642.3(AGL):c.*2060T>C rs191429370 0.00522
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_000642.3(AGL):c.*832G>A rs181486858 0.00251
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00200
NM_000642.3(AGL):c.-208C>T rs563389574 0.00192
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00120
NM_000642.3(AGL):c.*1766G>A rs564167641 0.00109
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00109
NM_000642.3(AGL):c.*1558T>C rs773444393 0.00104
NM_000642.3(AGL):c.*604A>G rs189939228 0.00102
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000642.3(AGL):c.*1610T>C rs184983509 0.00061
NM_000642.3(AGL):c.-134C>G rs548243205 0.00057
NM_000642.3(AGL):c.*698A>G rs537319413 0.00052
NM_000642.3(AGL):c.*595A>G rs763929813 0.00050
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00050
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_000642.3(AGL):c.*564T>C rs552782825 0.00042
NM_000642.3(AGL):c.*1581G>C rs76338815 0.00037
NM_000642.3(AGL):c.*1075T>A rs886044931 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_000642.3(AGL):c.*1224C>T rs12563807 0.00019
NM_000642.3(AGL):c.*2160C>T rs753401733 0.00017
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00017
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00013
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00012
NM_000642.3(AGL):c.*1103A>G rs138743315 0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_000642.3(AGL):c.*1691A>G rs886044933 0.00009
NM_000642.3(AGL):c.*1720A>C rs111689090 0.00009
NM_000642.3(AGL):c.*400T>C rs541803127 0.00009
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006 0.00009
NM_000642.3(AGL):c.*99del rs886044923 0.00008
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174 0.00008
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543 0.00008
NM_000642.3(AGL):c.*292A>G rs541731841 0.00007
NM_000642.3(AGL):c.-95A>G rs937844168 0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00007
NM_000642.3(AGL):c.*1952C>T rs886044934 0.00005
NM_000642.3(AGL):c.*395C>T rs886044925 0.00005
NM_000642.3(AGL):c.-104C>T rs982037804 0.00005
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000642.3(AGL):c.*670A>G rs886044927 0.00004
NM_000642.3(AGL):c.*1256A>C rs886044932 0.00003
NM_000642.3(AGL):c.*1359A>G rs919030085 0.00003
NM_000642.3(AGL):c.*562del rs886044926 0.00003
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000642.3(AGL):c.*794A>G rs886044929 0.00002
NM_000642.3(AGL):c.2682-7T>C rs375256646 0.00002
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg) rs769337147 0.00002
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917 0.00002
NM_000642.3(AGL):c.*1047A>T rs886044930 0.00001
NM_000642.3(AGL):c.*1860G>T rs1433664193 0.00001
NM_000642.3(AGL):c.*1971T>C rs139068984 0.00001
NM_000642.3(AGL):c.*229A>G rs979215337 0.00001
NM_000642.3(AGL):c.*257C>A rs1355749991 0.00001
NM_000642.3(AGL):c.*680T>A rs886044928 0.00001
NM_000642.3(AGL):c.*682A>G rs1177397896 0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1284-12A>C rs886044918 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129 0.00001
NM_000642.3(AGL):c.2905T>C (p.Tyr969His) rs1336583652 0.00001
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398 0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg) rs1329252752 0.00001
NM_000642.3(AGL):c.367C>G (p.Pro123Ala) rs372709840 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922 0.00001
NM_000642.3(AGL):c.515G>C (p.Cys172Ser) rs766234642 0.00001
NM_000642.3(AGL):c.818C>G (p.Ala273Gly) rs943273443 0.00001
NM_000642.3(AGL):c.847-7T>A rs750785301 0.00001
NM_000642.3(AGL):c.958+12A>G rs1227779911 0.00001
NM_000642.3(AGL):c.*105T>C rs886044924
NM_000642.3(AGL):c.*1817G>A rs1247253899
NM_000642.3(AGL):c.*1T>A rs1422276999
NM_000642.3(AGL):c.*615A>G rs1655565207
NM_000642.3(AGL):c.*83C>G rs1655526406
NM_000642.3(AGL):c.-82A>G rs1648854148
NM_000642.3(AGL):c.1284-4A>T rs372612377
NM_000642.3(AGL):c.1326A>G (p.Glu442=) rs886044919
NM_000642.3(AGL):c.1794A>G (p.Gly598=) rs1651940013
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3589-14T>G rs886044920
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe) rs772976797
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu) rs1655046172
NM_000642.3(AGL):c.4348-3dup rs886044921
NM_000642.3(AGL):c.573G>C (p.Lys191Asn) rs781491884

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