ClinVar Miner

List of variants reported as likely pathogenic for Mucolipidosis type IV

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Total variants: 20
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HGVS dbSNP
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372
NM_020533.3(MCOLN1):c.1134+2T>C rs1555742162
NM_020533.3(MCOLN1):c.1135-1G>A rs1057516458
NM_020533.3(MCOLN1):c.1135-1G>C rs1057516458
NM_020533.3(MCOLN1):c.1135-2A>G rs1057517335
NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter) rs1057516531
NM_020533.3(MCOLN1):c.31+1G>A rs1057516246
NM_020533.3(MCOLN1):c.32-2A>G rs1555741545
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) rs1555741548
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs) rs1057516602
NM_020533.3(MCOLN1):c.571+2T>C rs1555741822
NM_020533.3(MCOLN1):c.681-2A>G rs1057517453
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs) rs1057517040
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371
NM_020533.3(MCOLN1):c.973_984+10del rs779141908
NM_020533.3(MCOLN1):c.984+1G>A rs767950930

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