ClinVar Miner

List of variants in gene MTM1 studied for not specified

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000252.3(MTM1):c.1260+17A>G rs185258809 0.00687
NM_000252.3(MTM1):c.136+17A>G rs142891103 0.00648
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_000252.3(MTM1):c.867+17A>G rs371239013 0.00017
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) rs140642341 0.00007
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) rs587783807 0.00002
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) rs782137551 0.00001
NM_000252.3(MTM1):c.1468-10C>T rs782174623 0.00001
NM_000252.3(MTM1):c.444+16C>G rs1057523163 0.00001
NM_000252.3(MTM1):c.1228G>C (p.Glu410Gln) rs17852824
NM_000252.3(MTM1):c.1254T>C (p.Phe418=) rs587783767
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1297G>A (p.Asp433Asn) rs886044783
NM_000252.3(MTM1):c.137-11dup rs797045716
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.1484C>T (p.Thr495Ile) rs782128516
NM_000252.3(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000252.3(MTM1):c.405G>A (p.Glu135=) rs1557413212
NM_000252.3(MTM1):c.528+6A>G rs1057521934
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000252.3(MTM1):c.561T>C (p.Phe187=) rs587783837
NM_000252.3(MTM1):c.63+7del rs782222093
NM_000252.3(MTM1):c.684G>C (p.Leu228=) rs587783852
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys) rs587783861

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