ClinVar Miner

List of variants reported as pathogenic for Mucolipidosis type IV

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
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.920del (p.Leu307fs) rs755042147 0.00003
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.405+1G>A rs148748724 0.00001
NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs) rs1568398702 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
AF287270:g.511_6943del
NC_000019.10:g.(?_7522731)_(7528277_?)del
NC_000019.10:g.7521739_7528168del
NC_000019.9:g.(?_6361586)_(8212364_?)del
NC_000019.9:g.(?_7587627)_(7587677_?)del
NM_020533.2(MCOLN1):c.-1015_789del
NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter)
NM_020533.3(MCOLN1):c.1036del (p.Glu346fs)
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.1135-1G>C rs1057516458
NM_020533.3(MCOLN1):c.1208_1218del (p.Arg403fs)
NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs) rs797044822
NM_020533.3(MCOLN1):c.1212C>A (p.Tyr404Ter)
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020533.3(MCOLN1):c.1415_1419del (p.Asp472fs)
NM_020533.3(MCOLN1):c.1417_1418del (p.Met473fs)
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) rs797044823
NM_020533.3(MCOLN1):c.1569del (p.Ile524fs)
NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter) rs776845391
NM_020533.3(MCOLN1):c.1605_1606del (p.Ser535fs)
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs) rs1555742780
NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter) rs1368027694
NM_020533.3(MCOLN1):c.165del (p.Lys55fs) rs2146021332
NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs) rs2022549661
NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter) rs765577483
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) rs751298168
NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter) rs2022550603
NM_020533.3(MCOLN1):c.230del (p.Thr77fs) rs2146021402
NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)
NM_020533.3(MCOLN1):c.278del (p.Phe93fs) rs2146022423
NM_020533.3(MCOLN1):c.327C>G (p.Tyr109Ter)
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs) rs1555741548
NM_020533.3(MCOLN1):c.405+1G>C rs148748724
NM_020533.3(MCOLN1):c.405+2T>C rs2146022577
NM_020533.3(MCOLN1):c.419del (p.Pro140fs) rs2146022798
NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter) rs1056159821
NM_020533.3(MCOLN1):c.504del (p.Tyr169fs) rs2146022877
NM_020533.3(MCOLN1):c.507C>G (p.Tyr169Ter) rs896210352
NM_020533.3(MCOLN1):c.507del (p.Tyr170fs)
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.594del (p.Glu199fs) rs1349755445
NM_020533.3(MCOLN1):c.608del (p.Pro203fs)
NM_020533.3(MCOLN1):c.615dup (p.Ser206fs) rs886041533
NM_020533.3(MCOLN1):c.654C>A (p.Tyr218Ter) rs757685298
NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter) rs2146021205
NM_020533.3(MCOLN1):c.680+1G>A rs1599254152
NM_020533.3(MCOLN1):c.724del (p.Leu242fs) rs2146023956
NM_020533.3(MCOLN1):c.762T>G (p.Tyr254Ter)
NM_020533.3(MCOLN1):c.777+1G>C rs1057518781
NM_020533.3(MCOLN1):c.832C>T (p.Gln278Ter)
NM_020533.3(MCOLN1):c.844C>T (p.Gln282Ter) rs2146024231
NM_020533.3(MCOLN1):c.871C>T (p.Gln291Ter)
NM_020533.3(MCOLN1):c.874_877delinsTACT (p.His292_Gly293delinsTyrTer) rs2022601213
NM_020533.3(MCOLN1):c.880_881del (p.Asp294fs) rs2022607233
NM_020533.3(MCOLN1):c.940del (p.Leu314fs)
NM_020533.3(MCOLN1):c.948dup (p.Ala317fs) rs2146024554
NM_020533.3(MCOLN1):c.95dup (p.Pro33fs) rs2022547761
NM_020533.3:c.236_237ins[NC_012920.1:g.12435_12528]

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