List of variants reported as uncertain significance for mucolipidosis type III, alpha/beta by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)	rs561640998	0.00010
NM_024312.5(GNPTAB):c.2987C>A (p.Ser996Tyr)	rs1010106898
NM_032520.5(GNPTG):c.819_822del (p.Thr274fs)
NM_032520.5(GNPTG):c.823_823+1insTGCT

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