List of variants reported as likely pathogenic for Mucolipidosis

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)	rs281865025	0.00002
NM_024312.5(GNPTAB):c.1723G>A (p.Gly575Arg)
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)	rs143788461
NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter)
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)	rs776312538
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)	rs281865007
NM_024312.5(GNPTAB):c.324-2A>G
NM_024312.5(GNPTAB):c.3336-1G>C	rs397507562
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs)	rs781689303
NM_024312.5(GNPTAB):c.3663del (p.Met1221fs)	rs1952778845
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)	rs281864964
NM_024312.5(GNPTAB):c.750_751insA (p.Leu251fs)	rs1953320426
NM_032520.5(GNPTG):c.178+1G>A	rs1596603769
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)	rs1060499690

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