ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease IXb by Illumina Laboratory Services, Illumina

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000293.3(PHKB):c.*641C>A rs117861728 0.00962
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000293.3(PHKB):c.*915G>A rs151262633 0.00411
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_000293.3(PHKB):c.*989A>T rs530003571 0.00366
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_000293.3(PHKB):c.*590A>G rs143720939 0.00234
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409 0.00009
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348

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