ClinVar Miner

List of variants in gene PHKB reported as benign for Glycogen storage disease IXb

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000293.3(PHKB):c.*2086A>G rs9940720 0.01397
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_000293.3(PHKB):c.1363+13G>T rs117536391 0.01189
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000293.3(PHKB):c.870+17T>C rs75918606 0.00923
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00851
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000293.3(PHKB):c.*740C>T rs184521822 0.00652
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849 0.00453
NM_000293.3(PHKB):c.*226A>G rs9935072 0.00451
NM_000293.3(PHKB):c.1126+14T>G rs28691569 0.00450
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232 0.00206
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000293.3(PHKB):c.2532G>A (p.Glu844=) rs140117779 0.00088
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=) rs146134171 0.00061
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.76+2537G>A rs145777693 0.00014
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695 0.00012
NM_000293.3(PHKB):c.*148T>A rs368887864 0.00004
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.3144+9A>C rs200504388 0.00001
NM_000293.3(PHKB):c.595-5T>G rs369184808 0.00001
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000293.3(PHKB):c.*1753G>A rs7202866
NM_000293.3(PHKB):c.1204+16del
NM_000293.3(PHKB):c.2197-17G>A
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2766-14G>T rs375250621
NM_000293.3(PHKB):c.2858C>T (p.Pro953Leu)
NM_000293.3(PHKB):c.2896-4dup
NM_000293.3(PHKB):c.3144+33_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34del rs5816579
NM_000293.3(PHKB):c.77-8dup
NM_000293.3(PHKB):c.775-18T>C

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