ClinVar Miner

List of variants in gene MTM1 reported as pathogenic for not provided

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter) rs1557414505
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter) rs17852824
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs) rs398123267
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs) rs398123268
NM_000252.3(MTM1):c.137-11T>A rs1557412659
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs) rs797044503
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.142_143del (p.Glu48fs) rs398123270
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) rs2148511944
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1611C>A (p.Tyr537Ter) rs886041657
NM_000252.3(MTM1):c.1644+1G>T rs398123272
NM_000252.3(MTM1):c.1644+3_1644+6del rs797044504
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile) rs2148434107
NM_000252.3(MTM1):c.19del (p.Ser7fs) rs886044770
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.444+1G>A rs886044840
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter) rs886039522
NM_000252.3(MTM1):c.503del (p.Asn168fs) rs1603185038
NM_000252.3(MTM1):c.509_528dup (p.Gly177fs)
NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del) rs878853108
NM_000252.3(MTM1):c.593dup (p.Tyr198Ter) rs886041343
NM_000252.3(MTM1):c.595_599del (p.Pro199fs) rs398123273
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.814del (p.Ser272fs) rs1603192748
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
Single allele

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