List of variants reported as pathogenic for mucolipidosis type III, alpha/beta by OMIM

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.3335+6T>G	rs34788341	0.00005
NM_032520.5(GNPTG):c.610-2A>G	rs193302855	0.00004
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	rs34159654	0.00001
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)	rs137852900	0.00001
NM_024312.5(GNPTAB):c.2715+1G>A	rs281865031	0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)	rs137852897	0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)	rs137852885	0.00001
NM_032520.5(GNPTG):c.527-10G>A	rs1336176104	0.00001
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala)	rs137852895
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)	rs281865029
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	rs34002892
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)	rs756959430
NM_032520.4(GNPTG):c.611delG	rs193302856
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)	rs137852884
NM_032520.5(GNPTG):c.610-1G>T	rs193302854
NM_032520.5(GNPTG):c.639del (p.Phe213fs)	rs193302858
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs)	rs193302859

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