ClinVar Miner

List of variants studied for glycogen storage disease VI by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669 0.21064
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643 0.16448
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616 0.09756
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189 0.07133
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_002863.5(PYGL):c.772+16G>T rs17123173 0.02096
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_002863.5(PYGL):c.1621-6T>C rs74539788 0.01217
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326 0.00753
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932 0.00108
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala) rs142483613 0.00072
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn) rs78433217 0.00063
NM_002863.5(PYGL):c.1827+11T>A rs189147741 0.00055
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050 0.00044
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036 0.00041
NM_002863.5(PYGL):c.663G>A (p.Val221=) rs370565099 0.00031
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341 0.00029
NM_002863.5(PYGL):c.1404-8A>G rs374360647 0.00027
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00027
NM_002863.5(PYGL):c.1620+10C>G rs367866027 0.00027
NM_002863.5(PYGL):c.1728A>G (p.Arg576=) rs143287753 0.00027
NM_002863.5(PYGL):c.1824T>C (p.Gly608=) rs141456201 0.00027
NM_002863.5(PYGL):c.1828-9T>A rs372338710 0.00027
NM_002863.5(PYGL):c.1995G>A (p.Glu665=) rs148777213 0.00027
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) rs2228499 0.00024
NM_002863.5(PYGL):c.743G>A (p.Arg248Gln) rs776101957 0.00022
NM_002863.5(PYGL):c.364G>A (p.Glu122Lys) rs144099482 0.00021
NM_002863.5(PYGL):c.2380-9T>C rs368714229 0.00020
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112 0.00020
NM_002863.5(PYGL):c.1656G>A (p.Thr552=) rs376165151 0.00019
NM_002863.5(PYGL):c.696C>T (p.Pro232=) rs141485241 0.00015
NM_002863.5(PYGL):c.78A>G (p.Ala26=) rs572184134 0.00015
NM_002863.5(PYGL):c.132C>T (p.Arg44=) rs144280508 0.00014
NM_002863.5(PYGL):c.1629G>A (p.Lys543=) rs774872592 0.00012
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) rs147863207 0.00011
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315 0.00010
NM_002863.5(PYGL):c.1119C>T (p.Phe373=) rs151022264 0.00009
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) rs17721570 0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397 0.00006
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108 0.00005
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_002863.5(PYGL):c.1519-15C>A rs372886463 0.00004
NM_002863.5(PYGL):c.1731G>C (p.Gln577His) rs368171220 0.00004
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622 0.00004
NM_002863.5(PYGL):c.1598G>A (p.Arg533Gln) rs778002035 0.00003
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984 0.00003
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) rs113993979 0.00002
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) rs113993980 0.00002
NM_002863.5(PYGL):c.1597C>T (p.Arg533Trp) rs757446684 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr) rs555408487 0.00002
NM_002863.5(PYGL):c.2204C>T (p.Ala735Val) rs767910015 0.00002
NM_002863.5(PYGL):c.2358T>C (p.Asp786=) rs765783288 0.00002
NM_002863.5(PYGL):c.329A>T (p.Asp110Val) rs774026070 0.00002
NM_002863.5(PYGL):c.425-5T>G rs1025550045 0.00002
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs) rs758943884 0.00002
NM_002863.5(PYGL):c.1029T>G (p.Pro343=) rs921178179 0.00001
NM_002863.5(PYGL):c.1396A>G (p.Thr466Ala) rs2050436450 0.00001
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) rs138888959 0.00001
NM_002863.5(PYGL):c.1463C>G (p.Thr488Ser) rs202149628 0.00001
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter) rs774646420 0.00001
NM_002863.5(PYGL):c.1748A>G (p.His583Arg) rs375136222 0.00001
NM_002863.5(PYGL):c.1970-15T>A rs770476567 0.00001
NM_002863.5(PYGL):c.2070C>T (p.Ile690=) rs781089811 0.00001
NM_002863.5(PYGL):c.2182G>A (p.Glu728Lys) rs535447490 0.00001
NM_002863.5(PYGL):c.24G>A (p.Gln8=) rs769083575 0.00001
NM_002863.5(PYGL):c.275T>C (p.Met92Thr) rs767745350 0.00001
NM_002863.5(PYGL):c.298A>G (p.Met100Val) rs1273055538 0.00001
NM_002863.5(PYGL):c.401A>G (p.Asn134Ser) rs780574052 0.00001
NM_002863.5(PYGL):c.481C>T (p.Arg161Trp) rs749811385 0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975 0.00001
NM_002863.5(PYGL):c.772+1G>A rs776545903 0.00001
NM_002863.5(PYGL):c.809G>A (p.Arg270Gln) rs755488866 0.00001
NM_002863.5(PYGL):c.993G>A (p.Pro331=) rs1156602131 0.00001
NC_000014.8:g.(?_51372090)_(51411141_?)del
NC_000014.8:g.(?_51379727)_(51387805_?)dup
NC_000014.9:g.(?_50909875)_(50912323_?)del
NM_002863.5(PYGL):c.1000G>C (p.Val334Leu) rs2142798340
NM_002863.5(PYGL):c.1006A>G (p.Ile336Val) rs570077088
NM_002863.5(PYGL):c.1038G>T (p.Ala346=) rs759759626
NM_002863.5(PYGL):c.1090A>G (p.Lys364Glu)
NM_002863.5(PYGL):c.1093-16C>A
NM_002863.5(PYGL):c.1093-16C>T
NM_002863.5(PYGL):c.1093-7C>G
NM_002863.5(PYGL):c.1137A>G (p.Thr379=)
NM_002863.5(PYGL):c.1159C>T (p.Arg387Cys) rs773575319
NM_002863.5(PYGL):c.1160G>A (p.Arg387His)
NM_002863.5(PYGL):c.1160G>T (p.Arg387Leu)
NM_002863.5(PYGL):c.117G>T (p.Thr39=)
NM_002863.5(PYGL):c.1195C>G (p.Arg399Gly) rs113993978
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)
NM_002863.5(PYGL):c.1252T>C (p.Leu418=)
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) rs2050437440
NM_002863.5(PYGL):c.1365C>T (p.Gly455=)
NM_002863.5(PYGL):c.1389C>T (p.Ile463=)
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu) rs779051230
NM_002863.5(PYGL):c.1403+7C>G
NM_002863.5(PYGL):c.1404-10C>T
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) rs748519147
NM_002863.5(PYGL):c.1605C>T (p.Leu535=)
NM_002863.5(PYGL):c.1620+12A>T rs377310825
NM_002863.5(PYGL):c.1620+1G>T rs113993981
NM_002863.5(PYGL):c.1668G>A (p.Val556=) rs1213156043
NM_002863.5(PYGL):c.166C>T (p.Leu56=)
NM_002863.5(PYGL):c.16A>C (p.Thr6Pro) rs2050732195
NM_002863.5(PYGL):c.1715A>G (p.His572Arg)
NM_002863.5(PYGL):c.1768+10C>T rs780893472
NM_002863.5(PYGL):c.1769-15C>T rs1269501651
NM_002863.5(PYGL):c.179_197del (p.Val60fs)
NM_002863.5(PYGL):c.1827+19A>G
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr) rs767847163
NM_002863.5(PYGL):c.1902C>G (p.Asp634Glu)
NM_002863.5(PYGL):c.1925A>C (p.Lys642Thr)
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
NM_002863.5(PYGL):c.1969+7C>A
NM_002863.5(PYGL):c.1970-7C>G
NM_002863.5(PYGL):c.2014A>C (p.Thr672Pro) rs1241000496
NM_002863.5(PYGL):c.2042A>G (p.Lys681Arg)
NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)
NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del) rs2050376472
NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile) rs2142788432
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.208C>A (p.Arg70Ser) rs1555328661
NM_002863.5(PYGL):c.211A>C (p.Thr71Pro)
NM_002863.5(PYGL):c.2142G>A (p.Met714Ile)
NM_002863.5(PYGL):c.2163T>C (p.Ala721=)
NM_002863.5(PYGL):c.2177+17T>C
NM_002863.5(PYGL):c.2178-10T>A rs879201864
NM_002863.5(PYGL):c.2178-11del rs1555326336
NM_002863.5(PYGL):c.2181C>T (p.Tyr727=)
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser) rs759925909
NM_002863.5(PYGL):c.229_231del (p.Asp77del)
NM_002863.5(PYGL):c.2312+12T>C
NM_002863.5(PYGL):c.2313-20T>C
NM_002863.5(PYGL):c.2341T>C (p.Tyr781His) rs2142785955
NM_002863.5(PYGL):c.2380-12T>C
NM_002863.5(PYGL):c.2430G>A (p.Gly810=)
NM_002863.5(PYGL):c.2447G>A (p.Arg816Gln)
NM_002863.5(PYGL):c.2502G>A (p.Lys834=)
NM_002863.5(PYGL):c.2544_*12del (p.Ter848CysextTer?)
NM_002863.5(PYGL):c.258C>A (p.Leu86=)
NM_002863.5(PYGL):c.275T>G (p.Met92Arg) rs767745350
NM_002863.5(PYGL):c.281G>A (p.Arg94Gln)
NM_002863.5(PYGL):c.283A>G (p.Thr95Ala) rs200623468
NM_002863.5(PYGL):c.309C>G (p.Leu103=) rs773420518
NM_002863.5(PYGL):c.390T>C (p.Ala130=)
NM_002863.5(PYGL):c.393A>G (p.Gly131=)
NM_002863.5(PYGL):c.406G>C (p.Gly136Arg) rs2139194721
NM_002863.5(PYGL):c.41T>A (p.Ile14Asn) rs1566518078
NM_002863.5(PYGL):c.444G>A (p.Met148Ile) rs2050603053
NM_002863.5(PYGL):c.449C>T (p.Thr150Ile) rs1596047964
NM_002863.5(PYGL):c.49C>T (p.Arg17Cys)
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)
NM_002863.5(PYGL):c.528+15T>A
NM_002863.5(PYGL):c.559G>A (p.Gly187Arg) rs770642815
NM_002863.5(PYGL):c.592A>C (p.Met198Leu)
NM_002863.5(PYGL):c.607T>G (p.Phe203Val) rs1345778137
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg) rs1043083798
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)
NM_002863.5(PYGL):c.660+12_660+33del rs2050523960
NM_002863.5(PYGL):c.660+16G>A
NM_002863.5(PYGL):c.661-20G>C
NM_002863.5(PYGL):c.728G>A (p.Arg243His) rs1445713979
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu) rs1472614445
NM_002863.5(PYGL):c.772+2_772+3del rs765425704
NM_002863.5(PYGL):c.772+5G>T rs2050494485
NM_002863.5(PYGL):c.825C>T (p.Asn275=)
NM_002863.5(PYGL):c.865G>A (p.Gly289Arg) rs2139174321

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