ClinVar Miner

List of variants in gene MTMR2 reported by Molecular Genetics Laboratory, London Health Sciences Centre

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467 0.00053
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_016156.6(MTMR2):c.1594-20C>A rs201996397 0.00010
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=) rs372937811 0.00009
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00006
NM_016156.6(MTMR2):c.186+9A>G rs371081575 0.00004
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=) rs139369561 0.00003
NM_016156.6(MTMR2):c.655-19T>C rs756828009 0.00003
NM_016156.6(MTMR2):c.1387-19T>G rs760358740 0.00002
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) rs372095826 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_016156.6(MTMR2):c.297C>T (p.Gly99=) rs772347980 0.00002
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) rs887196115 0.00002
NM_016156.6(MTMR2):c.1770+3A>G rs756909627 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_016156.6(MTMR2):c.654+5G>A rs1398525959 0.00001
NM_016156.6(MTMR2):c.*17G>A rs1590967661
NM_016156.6(MTMR2):c.-15T>C rs1867041432
NM_016156.6(MTMR2):c.-16C>T rs1312979957
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.6(MTMR2):c.186+19A>T rs12385798
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe) rs1356220463
NM_016156.6(MTMR2):c.358-39_358-16del rs1864444648
NM_016156.6(MTMR2):c.358-42_358-18del rs1864444752
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.6(MTMR2):c.684A>G (p.Thr228=) rs116484470

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