ClinVar Miner

List of variants reported as likely benign for glycogen storage disease VI

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
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.30G>A (p.Lys10=) rs140912135 0.00046
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.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.1995G>A (p.Glu665=) rs148777213 0.00027
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.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.1119C>T (p.Phe373=) rs151022264 0.00009
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108 0.00005
NM_002863.5(PYGL):c.1519-15C>A rs372886463 0.00004
NM_002863.5(PYGL):c.2358T>C (p.Asp786=) rs765783288 0.00002
NM_002863.5(PYGL):c.1029T>G (p.Pro343=) rs921178179 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.24G>A (p.Gln8=) rs769083575 0.00001
NM_002863.5(PYGL):c.993G>A (p.Pro331=) rs1156602131 0.00001
NM_002863.5(PYGL):c.1038G>T (p.Ala346=) rs759759626
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.117G>T (p.Thr39=)
NM_002863.5(PYGL):c.1252T>C (p.Leu418=)
NM_002863.5(PYGL):c.1365C>T (p.Gly455=)
NM_002863.5(PYGL):c.1389C>T (p.Ile463=)
NM_002863.5(PYGL):c.1403+7C>G
NM_002863.5(PYGL):c.1404-10C>T
NM_002863.5(PYGL):c.1605C>T (p.Leu535=)
NM_002863.5(PYGL):c.1620+12A>T rs377310825
NM_002863.5(PYGL):c.1668G>A (p.Val556=) rs1213156043
NM_002863.5(PYGL):c.166C>T (p.Leu56=)
NM_002863.5(PYGL):c.1768+10C>T rs780893472
NM_002863.5(PYGL):c.1769-15C>T rs1269501651
NM_002863.5(PYGL):c.1827+19A>G
NM_002863.5(PYGL):c.1969+7C>A
NM_002863.5(PYGL):c.1970-7C>G
NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)
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.2181C>T (p.Tyr727=)
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
NM_002863.5(PYGL):c.2313-20T>C
NM_002863.5(PYGL):c.2430G>A (p.Gly810=)
NM_002863.5(PYGL):c.2502G>A (p.Lys834=)
NM_002863.5(PYGL):c.258C>A (p.Leu86=)
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.528+15T>A
NM_002863.5(PYGL):c.660+12_660+33del rs2050523960
NM_002863.5(PYGL):c.661-20G>C
NM_002863.5(PYGL):c.825C>T (p.Asn275=)

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