ClinVar Miner

List of variants in gene MTM1 reported as uncertain significance for not provided

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) rs372053838 0.00006
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) rs144473998 0.00005
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) rs782462553 0.00001
GRCh37/hg19 Xq28(chrX:149818189-149840068)x3
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys) rs727504019
NM_000252.3(MTM1):c.1054-5G>C rs398123265
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) rs2148508637
NM_000252.3(MTM1):c.110G>A (p.Arg37Gln)
NM_000252.3(MTM1):c.1174A>T (p.Met392Leu)
NM_000252.3(MTM1):c.122A>G (p.Glu41Gly) rs398123266
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
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.1334T>C (p.Val445Ala)
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) rs398123269
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000252.3(MTM1):c.1729G>T (p.Ala577Ser)
NM_000252.3(MTM1):c.231+2771A>G
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.342+3A>T rs2148456143
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) rs2148461766
NM_000252.3(MTM1):c.413C>T (p.Thr138Met)
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) rs368335697
NM_000252.3(MTM1):c.785A>C (p.Asp262Ala)
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.935A>G (p.His312Arg)

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