ClinVar Miner

List of variants reported as uncertain significance for glycogen storage disease VI

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
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.*78G>A rs190588867 0.00133
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932 0.00108
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.1757C>T (p.Thr586Met) rs144989341 0.00029
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00027
NM_002863.5(PYGL):c.1828-9T>A rs372338710 0.00027
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) rs2228499 0.00024
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112 0.00020
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.1092+11T>G rs781337096 0.00007
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.1093-11C>G rs768745213 0.00005
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108 0.00005
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln) rs369207678 0.00004
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.1598G>A (p.Arg533Gln) rs778002035 0.00003
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984 0.00003
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg) rs368758632 0.00003
NM_002863.5(PYGL):c.369A>G (p.Leu123=) rs778625321 0.00003
NM_002863.5(PYGL):c.772+14A>G rs370866175 0.00003
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln) rs375172368 0.00003
NM_002863.5(PYGL):c.1597C>T (p.Arg533Trp) rs757446684 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.2215C>A (p.Leu739Met) rs766875279 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.1396A>G (p.Thr466Ala) rs2050436450 0.00001
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu) rs143571464 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.1748A>G (p.His583Arg) rs375136222 0.00001
NM_002863.5(PYGL):c.2182G>A (p.Glu728Lys) rs535447490 0.00001
NM_002863.5(PYGL):c.2380-15A>G rs886050537 0.00001
NM_002863.5(PYGL):c.2481C>T (p.Asn827=) rs755274555 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.704T>C (p.Met235Thr) rs200920293 0.00001
NM_002863.5(PYGL):c.809G>A (p.Arg270Gln) rs755488866 0.00001
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala) rs774143179 0.00001
NC_000014.8:g.(?_51379727)_(51387805_?)dup
NM_002863.5(PYGL):c.*129T>C rs886050536
NM_002863.5(PYGL):c.1000G>C (p.Val334Leu) rs2142798340
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp) rs886050538
NM_002863.5(PYGL):c.1006A>G (p.Ile336Val) rs570077088
NM_002863.5(PYGL):c.1063G>A (p.Val355Met) rs771331012
NM_002863.5(PYGL):c.1090A>G (p.Lys364Glu)
NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)
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.1195C>G (p.Arg399Gly) rs113993978
NM_002863.5(PYGL):c.1286T>A (p.Met429Lys)
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu) rs779051230
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) rs748519147
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.1902C>G (p.Asp634Glu)
NM_002863.5(PYGL):c.1925A>C (p.Lys642Thr)
NM_002863.5(PYGL):c.1970-7C>G
NM_002863.5(PYGL):c.2014A>C (p.Thr672Pro) rs1241000496
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.2042A>G (p.Lys681Arg)
NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg) rs2050377435
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>A (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.2178-8_2178-7insT
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.2341T>C (p.Tyr781His) rs2142785955
NM_002863.5(PYGL):c.2446C>T (p.Arg816Ter)
NM_002863.5(PYGL):c.2447G>A (p.Arg816Gln)
NM_002863.5(PYGL):c.2544_*12del (p.Ter848CysextTer?)
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.310G>A (p.Gly104Ser) rs762102544
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr) rs745625131
NM_002863.5(PYGL):c.360A>T (p.Ile120=) rs1159794818
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.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.660+16G>A
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+5G>T rs2050494485
NM_002863.5(PYGL):c.773-13A>G rs775151283
NM_002863.5(PYGL):c.777T>A (p.Asn259Lys)
NM_002863.5(PYGL):c.780del (p.Gly261fs) rs1489848369
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp) rs2050490818
NM_002863.5(PYGL):c.865G>A (p.Gly289Arg) rs2139174321

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