ClinVar Miner

List of variants in gene MATR3 reported as likely benign for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_018834.6(MATR3):c.-56G>A rs59033177 0.01187
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_018834.6(MATR3):c.2494-6T>A rs376395410 0.00029
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_018834.6(MATR3):c.1377G>A (p.Ala459=) rs147356202 0.00014
NM_018834.6(MATR3):c.265A>G (p.Ile89Val) rs528548235 0.00010
NM_018834.6(MATR3):c.1116A>G (p.Pro372=) rs375938101 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_018834.6(MATR3):c.1435-14_1435-11del rs754942776 0.00008
NM_018834.6(MATR3):c.1129+9A>G rs372039740 0.00006
NM_018834.6(MATR3):c.1368C>T (p.Thr456=) rs200027384 0.00004
NM_018834.6(MATR3):c.2454T>C (p.Asn818=) rs146550337 0.00004
NM_018834.6(MATR3):c.1435-8T>C rs1055412692 0.00003
NM_018834.6(MATR3):c.384T>C (p.Tyr128=) rs776371632 0.00003
NM_018834.6(MATR3):c.732T>C (p.His244=) rs765914696 0.00003
NM_018834.6(MATR3):c.975-15C>T rs370659966 0.00003
NM_018834.6(MATR3):c.1479G>A (p.Glu493=) rs751178653 0.00002
NM_018834.6(MATR3):c.531T>C (p.Asp177=) rs367924183 0.00002
NM_018834.6(MATR3):c.657T>C (p.Tyr219=) rs775810771 0.00002
NM_018834.6(MATR3):c.670T>C (p.Leu224=) rs761066793 0.00002
NM_018834.6(MATR3):c.69G>A (p.Ala23=) rs750693851 0.00002
NM_018834.6(MATR3):c.1130-9C>T rs760841083 0.00001
NM_018834.6(MATR3):c.1401A>G (p.Arg467=) rs774463869 0.00001
NM_018834.6(MATR3):c.1404T>C (p.Val468=) rs1429293984 0.00001
NM_018834.6(MATR3):c.1512G>A (p.Pro504=) rs777712375 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1603-9C>A rs188764121 0.00001
NM_018834.6(MATR3):c.2181C>T (p.Asn727=) rs772833565 0.00001
NM_018834.6(MATR3):c.2238A>G (p.Glu746=) rs747456128 0.00001
NM_018834.6(MATR3):c.2265C>T (p.Asn755=) rs1361987333 0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064 0.00001
NM_018834.6(MATR3):c.2460T>C (p.His820=) rs1271177846 0.00001
NM_018834.6(MATR3):c.2538A>G (p.Glu846=) rs747688305 0.00001
NM_018834.6(MATR3):c.507A>G (p.Pro169=) rs1336473659 0.00001
NM_018834.6(MATR3):c.597G>A (p.Val199=) rs1754794221 0.00001
NM_018834.6(MATR3):c.974+7G>A rs1443299870 0.00001
NM_018834.6(MATR3):c.1010A>G (p.His337Arg) rs553687055
NM_018834.6(MATR3):c.1016+13T>C
NM_018834.6(MATR3):c.1017-16G>A rs2151984888
NM_018834.6(MATR3):c.1017-4C>T rs1035772952
NM_018834.6(MATR3):c.1017-4dup
NM_018834.6(MATR3):c.102G>A (p.Gln34=) rs747469006
NM_018834.6(MATR3):c.1129+7A>G rs1477606021
NM_018834.6(MATR3):c.1130-14C>G
NM_018834.6(MATR3):c.1130-18C>A rs1755284160
NM_018834.6(MATR3):c.1182+11A>G rs774114454
NM_018834.6(MATR3):c.1182+17T>G
NM_018834.6(MATR3):c.1183-4A>T
NM_018834.6(MATR3):c.1183-5del
NM_018834.6(MATR3):c.1245A>G (p.Leu415=)
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
NM_018834.6(MATR3):c.1263A>G (p.Pro421=) rs1581248568
NM_018834.6(MATR3):c.1284T>C (p.His428=)
NM_018834.6(MATR3):c.1308+18G>A
NM_018834.6(MATR3):c.1308+24_1308+26del
NM_018834.6(MATR3):c.1309-10A>G
NM_018834.6(MATR3):c.1332A>G (p.Thr444=)
NM_018834.6(MATR3):c.1383A>G (p.Val461=)
NM_018834.6(MATR3):c.1398G>A (p.Val466=)
NM_018834.6(MATR3):c.1413C>A (p.Ser471=)
NM_018834.6(MATR3):c.1434+10del rs2151995486
NM_018834.6(MATR3):c.1435-17G>A rs1291025838
NM_018834.6(MATR3):c.153C>T (p.Arg51=)
NM_018834.6(MATR3):c.1596A>G (p.Lys532=)
NM_018834.6(MATR3):c.1602+10A>G
NM_018834.6(MATR3):c.1602+9C>T
NM_018834.6(MATR3):c.1603-11T>C
NM_018834.6(MATR3):c.1603-11T>G
NM_018834.6(MATR3):c.1603-13_1603-12del
NM_018834.6(MATR3):c.1603-17T>G
NM_018834.6(MATR3):c.1603-18C>G
NM_018834.6(MATR3):c.1603-18C>T
NM_018834.6(MATR3):c.1603-19T>C
NM_018834.6(MATR3):c.1603-7T>C rs1161987811
NM_018834.6(MATR3):c.1603-7_1603-4del
NM_018834.6(MATR3):c.1603-9_1603-6del
NM_018834.6(MATR3):c.1603-9_1603-8del rs1581255414
NM_018834.6(MATR3):c.1629A>G (p.Glu543=)
NM_018834.6(MATR3):c.165A>G (p.Leu55=)
NM_018834.6(MATR3):c.1668C>T (p.Ala556=)
NM_018834.6(MATR3):c.1689T>C (p.Cys563=) rs201037038
NM_018834.6(MATR3):c.1716T>C (p.Tyr572=)
NM_018834.6(MATR3):c.1734+10A>G
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1734+19G>A
NM_018834.6(MATR3):c.1734+7A>G
NM_018834.6(MATR3):c.18G>A (p.Gln6=)
NM_018834.6(MATR3):c.190T>C (p.Leu64=) rs775134951
NM_018834.6(MATR3):c.2149-8A>G
NM_018834.6(MATR3):c.2160C>T (p.Ile720=)
NM_018834.6(MATR3):c.2187A>G (p.Ala729=)
NM_018834.6(MATR3):c.2190G>A (p.Ala730=)
NM_018834.6(MATR3):c.2199T>C (p.Asn733=)
NM_018834.6(MATR3):c.2220C>T (p.Asn740=) rs1204915381
NM_018834.6(MATR3):c.2223A>G (p.Thr741=)
NM_018834.6(MATR3):c.2232T>G (p.Gly744=) rs1581261752
NM_018834.6(MATR3):c.2235T>C (p.Ala745=)
NM_018834.6(MATR3):c.2301T>C (p.Asp767=) rs748749843
NM_018834.6(MATR3):c.2313C>T (p.Asp771=)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.2331T>C (p.Asp777=)
NM_018834.6(MATR3):c.2371+10A>G
NM_018834.6(MATR3):c.2371+13T>G rs2152022664
NM_018834.6(MATR3):c.2372-4C>T
NM_018834.6(MATR3):c.2424C>G (p.Leu808=) rs2152024327
NM_018834.6(MATR3):c.2448A>G (p.Ala816=)
NM_018834.6(MATR3):c.2493+12T>A
NM_018834.6(MATR3):c.2493+19C>T rs2152024488
NM_018834.6(MATR3):c.2494-8_2494-5del
NM_018834.6(MATR3):c.2494-9T>C
NM_018834.6(MATR3):c.306T>C (p.Arg102=) rs1397245799
NM_018834.6(MATR3):c.306T>G (p.Arg102=)
NM_018834.6(MATR3):c.334T>C (p.Leu112=)
NM_018834.6(MATR3):c.420A>G (p.Gln140=)
NM_018834.6(MATR3):c.429A>G (p.Leu143=)
NM_018834.6(MATR3):c.439A>C (p.Arg147=)
NM_018834.6(MATR3):c.459C>G (p.Gly153=)
NM_018834.6(MATR3):c.462T>C (p.Pro154=)
NM_018834.6(MATR3):c.474T>C (p.Tyr158=)
NM_018834.6(MATR3):c.504G>A (p.Glu168=)
NM_018834.6(MATR3):c.63G>C (p.Leu21=)
NM_018834.6(MATR3):c.663T>C (p.Asp221=) rs2151961303
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_018834.6(MATR3):c.747G>A (p.Glu249=)
NM_018834.6(MATR3):c.795C>T (p.Leu265=) rs1354833142
NM_018834.6(MATR3):c.813C>T (p.Gly271=) rs1754806535
NM_018834.6(MATR3):c.81C>G (p.Gly27=)
NM_018834.6(MATR3):c.870C>T (p.Pro290=)
NM_018834.6(MATR3):c.897A>C (p.Pro299=)
NM_018834.6(MATR3):c.90T>C (p.Ala30=)
NM_018834.6(MATR3):c.912+11_912+15del
NM_018834.6(MATR3):c.924A>G (p.Gln308=)
NM_018834.6(MATR3):c.93T>G (p.Ala31=)
NM_018834.6(MATR3):c.966T>C (p.Leu322=)
NM_018834.6(MATR3):c.974+20T>C

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