ClinVar Miner

List of variants reported for Mucolipidosis type IV by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser) rs797044818 0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NC_000019.10:g.7521739_7528168del
NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) rs797044823
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs) rs1555742780
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824

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