ClinVar Miner

List of variants studied for Glycogen storage disease type III by Nilou-Genome Lab

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Total variants: 8
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HGVS dbSNP
NM_000642.3(AGL):c.1424-44A>G rs2291638
NM_000642.3(AGL):c.2001+8T>C rs3736296
NM_000642.3(AGL):c.2812+11G>A rs555929
NM_000642.3(AGL):c.2950-21T>A rs2035961
NM_000642.3(AGL):c.3259+37G>A rs594249
NM_000642.3(AGL):c.3836+45G>A rs2274570
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306

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