ClinVar Miner

List of variants studied for Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593 0.00113
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) rs147904018 0.00054
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_004006.3(DMD):c.-188C>T rs886043394 0.00045
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00019
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser) rs146420425 0.00010
NM_004006.3(DMD):c.-75G>A rs778938887 0.00009
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln) rs1023328955 0.00009
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu) rs181517869 0.00007
NM_004006.3(DMD):c.6117+15C>T rs754718247 0.00006
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg) rs762708936 0.00006
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser) rs398124071 0.00006
NM_004006.3(DMD):c.146G>A (p.Arg49His) rs765584669 0.00005
NM_004006.3(DMD):c.1654G>T (p.Val552Phe) rs748690103 0.00005
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr) rs201516290 0.00005
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu) rs371588290 0.00005
NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg) rs750419527 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe) rs185247491 0.00005
NM_004006.3(DMD):c.1534C>T (p.His512Tyr) rs147136371 0.00004
NM_004006.3(DMD):c.1742C>T (p.Ala581Val) rs763155705 0.00004
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser) rs150692967 0.00004
NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg) rs146880270 0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.1183C>T (p.Arg395Trp) rs780356433 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.1988C>T (p.Ala663Val) rs41309715 0.00003
NM_004006.3(DMD):c.2323A>G (p.Arg775Gly) rs886038905 0.00003
NM_004006.3(DMD):c.2518C>G (p.Gln840Glu) rs398123892 0.00003
NM_004006.3(DMD):c.2912A>T (p.Asp971Val) rs762154042 0.00003
NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr) rs748123444 0.00003
NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu) rs748769566 0.00003
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp) rs755477994 0.00003
NM_004006.3(DMD):c.626T>C (p.Ile209Thr) rs372832497 0.00003
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln) rs756238158 0.00003
NM_004006.3(DMD):c.6726A>G (p.Lys2242=) rs145993057 0.00003
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr) rs772732788 0.00003
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val) rs367748290 0.00002
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg) rs1216968523 0.00002
NM_004006.3(DMD):c.11015-5T>A rs753104670 0.00002
NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala) rs768016083 0.00002
NM_004006.3(DMD):c.1463G>A (p.Arg488His) rs794727065 0.00002
NM_004006.3(DMD):c.1536C>A (p.His512Gln) rs776446238 0.00002
NM_004006.3(DMD):c.2233C>G (p.Pro745Ala) rs1435295333 0.00002
NM_004006.3(DMD):c.2726C>T (p.Ala909Val) rs370014420 0.00002
NM_004006.3(DMD):c.2842A>G (p.Met948Val) rs186628781 0.00002
NM_004006.3(DMD):c.298G>A (p.Val100Ile) rs779099343 0.00002
NM_004006.3(DMD):c.3029C>T (p.Ala1010Val) rs780896933 0.00002
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe) rs375329908 0.00002
NM_004006.3(DMD):c.3619G>A (p.Ala1207Thr) rs1448639542 0.00002
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly) rs759820971 0.00002
NM_004006.3(DMD):c.4728G>C (p.Met1576Ile) rs757160024 0.00002
NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe) rs398123975 0.00002
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys) rs377039314 0.00002
NM_004006.3(DMD):c.6787C>T (p.Arg2263Cys) rs200045725 0.00002
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp) rs759274835 0.00002
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln) rs771509836 0.00002
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp) rs757011771 0.00002
NM_004006.3(DMD):c.772C>A (p.Pro258Thr) rs773066825 0.00002
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp) rs770516401 0.00001
NM_004006.3(DMD):c.10712G>A (p.Arg3571His) rs935091512 0.00001
NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro) rs990606875 0.00001
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile) rs773299186 0.00001
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu) rs863224981 0.00001
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys) rs778354538 0.00001
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys) rs775846754 0.00001
NM_004006.3(DMD):c.2017C>G (p.Gln673Glu) rs128626232 0.00001
NM_004006.3(DMD):c.2039C>A (p.Thr680Asn) rs367769606 0.00001
NM_004006.3(DMD):c.2079G>T (p.Gln693His) rs761441684 0.00001
NM_004006.3(DMD):c.2312C>T (p.Ala771Val) rs1245604423 0.00001
NM_004006.3(DMD):c.2381-7T>G rs1201559737 0.00001
NM_004006.3(DMD):c.2551A>C (p.Asn851His) rs753665097 0.00001
NM_004006.3(DMD):c.2764T>G (p.Phe922Val) rs185395584 0.00001
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu) rs745640786 0.00001
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp) rs1462655612 0.00001
NM_004006.3(DMD):c.5146G>A (p.Val1716Met) rs748814615 0.00001
NM_004006.3(DMD):c.5156G>A (p.Arg1719His) rs1273883368 0.00001
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu) rs770845480 0.00001
NM_004006.3(DMD):c.5741A>G (p.Glu1914Gly) rs985546923 0.00001
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr) rs767681834 0.00001
NM_004006.3(DMD):c.6763-2A>G rs398124033 0.00001
NM_004006.3(DMD):c.7490G>T (p.Arg2497Met) rs1312256471 0.00001
NM_004006.3(DMD):c.74T>C (p.Val25Ala) rs886039061 0.00001
NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile) rs747127624 0.00001
NM_004006.3(DMD):c.8072T>C (p.Leu2691Pro) rs748485762 0.00001
NM_004006.3(DMD):c.836C>T (p.Thr279Met) rs369135184 0.00001
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp) rs1188233243 0.00001
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln) rs750579766 0.00001
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10554-29_10554-20del rs200138464
NM_004006.3(DMD):c.1097G>A (p.Gly366Glu) rs763144501
NM_004006.3(DMD):c.11031A>G (p.Gly3677=) rs2147665754
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter) rs2149350253
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser) rs766450050
NM_004006.3(DMD):c.1788G>A (p.Met596Ile) rs2052669244
NM_004006.3(DMD):c.1826A>G (p.Asp609Gly) rs2149095572
NM_004006.3(DMD):c.1851G>A (p.Met617Ile) rs1238073206
NM_004006.3(DMD):c.1915A>C (p.Lys639Gln) rs2149094935
NM_004006.3(DMD):c.2273A>G (p.Asp758Gly) rs750526692
NM_004006.3(DMD):c.2328A>G (p.Lys776=) rs1603634973
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) rs794727226
NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro) rs2040288189
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3190A>G (p.Met1064Val) rs1281398911
NM_004006.3(DMD):c.365A>C (p.Asn122Thr) rs1603437369
NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu) rs2098269308
NM_004006.3(DMD):c.4477G>A (p.Val1493Met) rs2097986154
NM_004006.3(DMD):c.4741A>G (p.Asn1581Asp) rs727503831
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp) rs886044407
NM_004006.3(DMD):c.4987G>A (p.Val1663Ile) rs2147259228
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.5922+3G>C rs398124000
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup) rs1395996899
NM_004006.3(DMD):c.6839G>A (p.Ser2280Asn) rs1060502614
NM_004006.3(DMD):c.7514A>T (p.Asp2505Val) rs2090505173
NM_004006.3(DMD):c.803T>C (p.Leu268Ser) rs939491009
NM_004006.3(DMD):c.8150A>G (p.Asp2717Gly) rs886043271
NM_004006.3(DMD):c.8391-1_8391delinsAA rs1060502619
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.8794A>T (p.Thr2932Ser) rs2067958322
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004006.3(DMD):c.960G>A (p.Gln320=) rs772656026

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