ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease type III by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 97
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HGVS dbSNP
NM_000642.2(AGL):c.-134C>G rs548243205
NM_000642.2(AGL):c.-208C>T rs563389574
NM_000642.3(AGL):c.*1047A>T rs886044930
NM_000642.3(AGL):c.*105T>C rs886044924
NM_000642.3(AGL):c.*1075T>A rs886044931
NM_000642.3(AGL):c.*1103A>G
NM_000642.3(AGL):c.*1224C>T
NM_000642.3(AGL):c.*1256A>C rs886044932
NM_000642.3(AGL):c.*1359A>G
NM_000642.3(AGL):c.*1558T>C
NM_000642.3(AGL):c.*1610T>C
NM_000642.3(AGL):c.*1691A>G rs886044933
NM_000642.3(AGL):c.*1720A>C
NM_000642.3(AGL):c.*1766G>A
NM_000642.3(AGL):c.*1817G>A
NM_000642.3(AGL):c.*1860G>T
NM_000642.3(AGL):c.*1952C>T rs886044934
NM_000642.3(AGL):c.*1971T>C
NM_000642.3(AGL):c.*1T>A
NM_000642.3(AGL):c.*2058G>A
NM_000642.3(AGL):c.*2060T>C
NM_000642.3(AGL):c.*2160C>T rs753401733
NM_000642.3(AGL):c.*229A>G
NM_000642.3(AGL):c.*257C>A
NM_000642.3(AGL):c.*292A>G rs541731841
NM_000642.3(AGL):c.*395C>T rs886044925
NM_000642.3(AGL):c.*400T>C
NM_000642.3(AGL):c.*562del rs886044926
NM_000642.3(AGL):c.*564T>C rs552782825
NM_000642.3(AGL):c.*595A>G
NM_000642.3(AGL):c.*604A>G
NM_000642.3(AGL):c.*615A>G
NM_000642.3(AGL):c.*670A>G rs886044927
NM_000642.3(AGL):c.*680T>A rs886044928
NM_000642.3(AGL):c.*682A>G
NM_000642.3(AGL):c.*698A>G
NM_000642.3(AGL):c.*794A>G rs886044929
NM_000642.3(AGL):c.*832G>A rs181486858
NM_000642.3(AGL):c.*83C>G
NM_000642.3(AGL):c.*99del rs886044923
NM_000642.3(AGL):c.-104C>T
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.-82A>G
NM_000642.3(AGL):c.-95A>G
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174
NM_000642.3(AGL):c.1284-12A>C rs886044918
NM_000642.3(AGL):c.1284-4A>T
NM_000642.3(AGL):c.1326A>G (p.Glu442=) rs886044919
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.1794A>G (p.Gly598=)
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2682-7T>C rs375256646
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg)
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.3589-14T>G rs886044920
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe) rs772976797
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu)
NM_000642.3(AGL):c.4256del (p.Pro1419fs) rs1557792839
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000642.3(AGL):c.4348-3dup rs886044921
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000642.3(AGL):c.515G>C (p.Cys172Ser) rs766234642
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.846+14G>A rs376827010
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917
NM_000642.3(AGL):c.958+12A>G
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527

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