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Canavan: |
Y231X, E285A, A305E, and 433 (-2) A/G |
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Gaucher: |
N370S, V394L, D409H, L444P, R496H, IVS2 (+1)G/A, 84 insG/GG, and 1263-1317del55 |
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Familial Dysautonomia: |
R696P, IVS20 (+6) T/C |
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Nieman Pick: |
L302P, (-1) del p330FS, R496L, and R608 (-3) |
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Fanconi Anemia: |
322delG, IVS4(+4)A/T |
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Bloom Syndrome: |
2281delATCTGAinsTAGATTC |
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Tay Sachs: |
R247W, R249W, G269S, 1278 insTATC, IVS9(+1)G/A, IVS12(+1)G/C, and
7.6kb del |
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Mucolipidosis IV: |
IVS3 (-2)A/G, del6.4kb |
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