ClinVar Miner

List of variants studied for Glycogen storage disease, type I by Illumina Laboratory Services, Illumina

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.-420G>C rs2846281 0.80326
NM_001164277.1(SLC37A4):c.-755T>A rs1784559 0.50768
NM_001164277.2(SLC37A4):c.-516G>A rs3759012 0.44121
NM_001164277.2(SLC37A4):c.*125G>C rs8301 0.28518
NM_001164277.2(SLC37A4):c.*418T>C rs11006 0.18616
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) rs34123220 0.04470
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_001164277.2(SLC37A4):c.-42G>C rs186567090 0.00253
NM_001164277.2(SLC37A4):c.-573C>G rs550169691 0.00220
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_001164277.2(SLC37A4):c.-700+9C>T rs534659292 0.00077
NM_001164277.2(SLC37A4):c.*298C>T rs886047745 0.00039
NM_001164277.2(SLC37A4):c.-670C>T rs886047754 0.00019
NM_001164277.2(SLC37A4):c.*31C>T rs564775174 0.00011
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln) rs78735156 0.00011
NM_000151.4(G6PC1):c.*2311C>T rs372226654 0.00006
NM_000151.4(G6PC1):c.*1313A>G rs886052962 0.00005
NM_001164277.2(SLC37A4):c.-64C>T rs150026242 0.00005
NM_001164277.2(SLC37A4):c.-183C>T rs145369754 0.00004
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001164277.2(SLC37A4):c.*204C>T rs1299052310 0.00002
NM_001164277.2(SLC37A4):c.*263T>C rs183965171 0.00002
NM_001164277.2(SLC37A4):c.*138C>T rs867580827 0.00001
NM_001164277.2(SLC37A4):c.*283T>C rs886047746 0.00001
NM_001164277.2(SLC37A4):c.*338T>C rs1014083666 0.00001
NM_001164277.2(SLC37A4):c.-279C>T rs886047752 0.00001
NM_001164277.2(SLC37A4):c.-50T>G rs886047750 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=) rs776272750 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_000151.4(G6PC1):c.*1227dup rs397735497
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1] rs397717945
NM_000151.4(G6PC1):c.*2687del rs113390675
NM_001164277.2(SLC37A4):c.*139G>T rs886047747
NM_001164277.2(SLC37A4):c.*360C>G rs886047744
NM_001164277.2(SLC37A4):c.*5A>C rs373050741
NM_001164277.2(SLC37A4):c.-108G>A rs536032716
NM_001164277.2(SLC37A4):c.-195-11G>T rs886047751
NM_001164277.2(SLC37A4):c.-217G>A rs527772065
NM_001164277.2(SLC37A4):c.-291del rs754442670
NM_001164277.2(SLC37A4):c.-384G>A rs886047753
NM_001164277.2(SLC37A4):c.-439T>C rs1943713097
NM_001164277.2(SLC37A4):c.-594A>T rs993428424
NM_001164277.2(SLC37A4):c.-99A>G rs1943684789
NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=) rs886047749
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.2(SLC37A4):c.148+7C>T rs782814241
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val) rs1280285676
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=) rs1376674013
NM_001164277.2(SLC37A4):c.382-6C>A rs756248657
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp) rs752687782
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=) rs1555191880
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) rs369399624

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