List of variants reported as pathogenic for Mucolipidosis type IV; Lisch epithelial corneal dystrophy

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020533.3(MCOLN1):c.406-2A>G	rs104886461	0.00009
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)	rs755042147	0.00003
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	rs767122713	0.00001
NM_020533.3(MCOLN1):c.984+1G>A	rs767950930	0.00001
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)	rs797044824
NM_020533.3(MCOLN1):c.576C>A (p.Cys192Ter)

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