ClinVar Miner

List of variants reported as likely pathogenic for Mucolipidosis type IV

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.31+1G>A rs1057516246 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.405+1G>A rs148748724 0.00001
NM_020533.3(MCOLN1):c.681-19A>C rs768736321 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
NM_020533.3(MCOLN1):c.984+1G>A rs767950930 0.00001
NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del
NM_020533.3(MCOLN1):c.1034G>A (p.Trp345Ter)
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
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.1149C>G (p.Tyr383Ter) rs376777270
NM_020533.3(MCOLN1):c.117del (p.Asp40fs)
NM_020533.3(MCOLN1):c.11dup (p.Ala5fs)
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1230delinsTCAGG (p.Tyr411fs)
NM_020533.3(MCOLN1):c.1237-1G>A rs2146025416
NM_020533.3(MCOLN1):c.1237-2A>C rs2146025414
NM_020533.3(MCOLN1):c.1306T>C (p.Tyr436His)
NM_020533.3(MCOLN1):c.1308C>G (p.Tyr436Ter) rs1599255682
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020533.3(MCOLN1):c.1360-1G>T
NM_020533.3(MCOLN1):c.141C>G (p.Tyr47Ter)
NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter) rs1057516531
NM_020533.3(MCOLN1):c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)
NM_020533.3(MCOLN1):c.32-1G>C rs2146021137
NM_020533.3(MCOLN1):c.32-2A>G rs1555741545
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) rs1555741548
NM_020533.3(MCOLN1):c.406-1_417del rs2146022784
NM_020533.3(MCOLN1):c.426del (p.Ser143fs)
NM_020533.3(MCOLN1):c.499del (p.Gln167fs)
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.520del (p.His174fs)
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs) rs1057516602
NM_020533.3(MCOLN1):c.571+2T>C rs1555741822
NM_020533.3(MCOLN1):c.572-2A>C rs2146023425
NM_020533.3(MCOLN1):c.608del (p.Pro203fs)
NM_020533.3(MCOLN1):c.63del (p.Tyr22fs)
NM_020533.3(MCOLN1):c.679A>T (p.Lys227Ter)
NM_020533.3(MCOLN1):c.680+1G>A rs1599254152
NM_020533.3(MCOLN1):c.681-1G>C
NM_020533.3(MCOLN1):c.681-2A>G rs1057517453
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs) rs1057517040
NM_020533.3(MCOLN1):c.865_866insACTG (p.Val289fs)
NM_020533.3(MCOLN1):c.973_984+10del rs779141908

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