ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.137-3T>G rs878853069
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.232-16T>G rs2148455901
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.581T>C (p.Leu194Pro) rs2148488487
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.971_972dup (p.Lys325Ter) rs2148497891

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