List of variants reported as likely benign for mucolipidosis type III, alpha/beta by Illumina Laboratory Services, Illumina

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.*323T>C	rs75757716	0.03440
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)	rs7958709	0.01289
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=)	rs78347057	0.01017
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met)	rs34083392	0.00720
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)	rs76594024	0.00606
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)	rs117566084	0.00508
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=)	rs61745799	0.00448
NM_032520.5(GNPTG):c.*68G>T	rs60000415	0.00280
NM_024312.5(GNPTAB):c.571+12T>C	rs112056979	0.00227
NM_032520.5(GNPTG):c.*27C>T	rs189677035	0.00029
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr)	rs201829728	0.00018
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)	rs190614894	0.00014
NM_024312.5(GNPTAB):c.3335+11C>G	rs191087950	0.00012
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=)	rs139215843	0.00001
NM_032520.4(GNPTG):c.-72G>C	rs28654239

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