ClinVar Miner

List of variants in gene MYOZ2

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Gene type:
ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_016599.5(MYOZ2):c.-15+28C>T rs7653944 0.99730
NM_016599.5(MYOZ2):c.77-101T>C rs6853794 0.96520
NM_016599.5(MYOZ2):c.246+42A>G rs6828349 0.59001
NM_016599.5(MYOZ2):c.247-18A>G rs11721566 0.58647
NM_016599.5(MYOZ2):c.246+79G>C rs6829055 0.58578
NM_016599.5(MYOZ2):c.246+37G>C rs6828875 0.58505
NM_016599.5(MYOZ2):c.376+81G>A rs11729978 0.36388
NM_016599.5(MYOZ2):c.561-139T>C rs7661020 0.27375
NC_000004.12:g.119186528G>A rs62326345 0.22057
NM_016599.5(MYOZ2):c.459A>G (p.Glu153=) rs7687613 0.06987
NC_000004.12:g.119186367C>T rs79431637 0.03689
NM_016599.5(MYOZ2):c.560+127A>G rs77187847 0.03505
NM_016599.5(MYOZ2):c.377-222A>T rs76469576 0.03172
NM_016599.5(MYOZ2):c.76+96A>G rs79118546 0.02509
NM_016599.5(MYOZ2):c.-14-112G>A rs78415046 0.02252
NM_016599.5(MYOZ2):c.376+176G>A rs115337433 0.02162
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00928
NM_016599.5(MYOZ2):c.-87A>G rs11559058 0.00888
NM_016599.5(MYOZ2):c.750C>T (p.Thr250=) rs17049982 0.00857
NM_016599.5(MYOZ2):c.246+209C>G rs79836168 0.00805
NM_016599.5(MYOZ2):c.*83A>G rs193186153 0.00677
NM_016599.5(MYOZ2):c.76+19C>T rs77591499 0.00452
NM_016599.5(MYOZ2):c.-42C>T rs146320826 0.00403
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_016599.5(MYOZ2):c.76+20G>A rs113920336 0.00177
NM_016599.5(MYOZ2):c.-14-258C>A rs181092724 0.00126
NM_016599.5(MYOZ2):c.228A>G (p.Gln76=) rs192725921 0.00100
NM_016599.5(MYOZ2):c.360A>G (p.Pro120=) rs117556704 0.00085
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg) rs148908208 0.00022
NM_016599.5(MYOZ2):c.*192_*193insATA rs536614678 0.00013
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile) rs554299359 0.00013
NM_016599.5(MYOZ2):c.76+10A>G rs372006344 0.00013
NM_016599.5(MYOZ2):c.303G>A (p.Ser101=) rs527258961 0.00009
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu) rs200791464 0.00008
NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr) rs149125238 0.00007
NM_016599.5(MYOZ2):c.-41G>A rs532582620 0.00006
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala) rs762234986 0.00006
NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr) rs144720577 0.00004
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) rs200428820 0.00004
NM_016599.5(MYOZ2):c.-14-20T>C rs765760107 0.00003
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val) rs746027670 0.00003
NM_016599.5(MYOZ2):c.313C>T (p.Pro105Ser) rs748809573 0.00003
NM_016599.5(MYOZ2):c.376+9T>A rs536009604 0.00003
NM_016599.5(MYOZ2):c.383C>T (p.Ser128Phe) rs1051918078 0.00003
NM_016599.5(MYOZ2):c.423C>T (p.Thr141=) rs148220911 0.00003
NM_016599.5(MYOZ2):c.523G>A (p.Gly175Arg) rs147532351 0.00003
NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys) rs752275226 0.00003
NM_016599.5(MYOZ2):c.76+8T>C rs773231367 0.00003
NM_016599.5(MYOZ2):c.768C>A (p.Thr256=) rs727503333 0.00003
NM_016599.5(MYOZ2):c.200A>G (p.Lys67Arg) rs1215550950 0.00002
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val) rs772659939 0.00002
NM_016599.5(MYOZ2):c.376+2T>C rs112675369 0.00002
NM_016599.5(MYOZ2):c.480G>A (p.Pro160=) rs779726933 0.00002
NM_016599.5(MYOZ2):c.504T>C (p.Pro168=) rs769668877 0.00002
NM_016599.5(MYOZ2):c.561-13T>A rs774606671 0.00002
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln) rs727503332 0.00002
NM_016599.5(MYOZ2):c.114C>G (p.Ile38Met) rs1741433554 0.00001
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu) rs376901669 0.00001
NM_016599.5(MYOZ2):c.123C>T (p.Asp41=) rs753422262 0.00001
NM_016599.5(MYOZ2):c.148C>T (p.Leu50Phe) rs1015335570 0.00001
NM_016599.5(MYOZ2):c.150C>T (p.Leu50=) rs750398714 0.00001
NM_016599.5(MYOZ2):c.158G>A (p.Arg53His) rs751671131 0.00001
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys) rs755233280 0.00001
NM_016599.5(MYOZ2):c.182G>A (p.Arg61His) rs748259386 0.00001
NM_016599.5(MYOZ2):c.190A>C (p.Arg64=) rs727505324 0.00001
NM_016599.5(MYOZ2):c.198C>A (p.Asp66Glu) rs749869990 0.00001
NM_016599.5(MYOZ2):c.20T>C (p.Met7Thr) rs974668391 0.00001
NM_016599.5(MYOZ2):c.220C>T (p.Gln74Ter) rs863223715 0.00001
NM_016599.5(MYOZ2):c.221A>G (p.Gln74Arg) rs531506148 0.00001
NM_016599.5(MYOZ2):c.227A>G (p.Gln76Arg) rs761283496 0.00001
NM_016599.5(MYOZ2):c.238C>A (p.Gln80Lys) rs1475725989 0.00001
NM_016599.5(MYOZ2):c.247-3C>T rs774202003 0.00001
NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met) rs759342600 0.00001
NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala) rs764229797 0.00001
NM_016599.5(MYOZ2):c.292G>C (p.Glu98Gln) rs779446731 0.00001
NM_016599.5(MYOZ2):c.309A>G (p.Gln103=) rs1051191303 0.00001
NM_016599.5(MYOZ2):c.330C>T (p.Asn110=) rs370237979 0.00001
NM_016599.5(MYOZ2):c.333C>T (p.Thr111=) rs1553958625 0.00001
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter) rs374655743 0.00001
NM_016599.5(MYOZ2):c.344G>A (p.Arg115Gln) rs775457082 0.00001
NM_016599.5(MYOZ2):c.362A>G (p.Asp121Gly) rs1311299735 0.00001
NM_016599.5(MYOZ2):c.363C>A (p.Asp121Glu) rs754050093 0.00001
NM_016599.5(MYOZ2):c.376+1G>T rs1741625973 0.00001
NM_016599.5(MYOZ2):c.377-15T>C rs750496076 0.00001
NM_016599.5(MYOZ2):c.377-5C>T rs752100244 0.00001
NM_016599.5(MYOZ2):c.386G>A (p.Gly129Glu) rs755330029 0.00001
NM_016599.5(MYOZ2):c.389C>T (p.Pro130Leu) rs890598036 0.00001
NM_016599.5(MYOZ2):c.391C>T (p.Leu131=) rs1553959019 0.00001
NM_016599.5(MYOZ2):c.392T>A (p.Leu131Gln) rs781466292 0.00001
NM_016599.5(MYOZ2):c.419A>T (p.Asn140Ile) rs745351307 0.00001
NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser) rs1227160156 0.00001
NM_016599.5(MYOZ2):c.538C>T (p.Pro180Ser) rs969936455 0.00001
NM_016599.5(MYOZ2):c.544T>C (p.Tyr182His) rs776107985 0.00001
NM_016599.5(MYOZ2):c.546C>T (p.Tyr182=) rs1217892266 0.00001
NM_016599.5(MYOZ2):c.552C>T (p.Ser184=) rs1157326839 0.00001
NM_016599.5(MYOZ2):c.560+9A>G rs397517290 0.00001
NM_016599.5(MYOZ2):c.561-20T>C rs771164968 0.00001
NM_016599.5(MYOZ2):c.561-6C>T rs745918436 0.00001
NM_016599.5(MYOZ2):c.566C>T (p.Ala189Val) rs775850657 0.00001
NM_016599.5(MYOZ2):c.57G>A (p.Met19Ile) rs1409885273 0.00001
NM_016599.5(MYOZ2):c.649C>A (p.Pro217Thr) rs751294999 0.00001
NM_016599.5(MYOZ2):c.650C>G (p.Pro217Arg) rs901639643 0.00001
NM_016599.5(MYOZ2):c.659T>C (p.Met220Thr) rs1578374324 0.00001
NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu) rs201971682 0.00001
NM_016599.5(MYOZ2):c.673C>A (p.Pro225Thr) rs1309021294 0.00001
NM_016599.5(MYOZ2):c.702G>C (p.Arg234Ser) rs757085402 0.00001
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg) rs796785947 0.00001
NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile) rs774131437 0.00001
NM_016599.5(MYOZ2):c.75T>C (p.Asn25=) rs201476980 0.00001
NM_016599.5(MYOZ2):c.773T>A (p.Val258Glu) rs760620614 0.00001
NM_016599.5(MYOZ2):c.786A>C (p.Glu262Asp) rs863223714 0.00001
GRCh37/hg19 4q26(chr4:119993498-120112459)x3
GRCh37/hg19 4q26(chr4:120057666-120107431)x3
NC_000004.11:g.(?_120056938)_(120108945_?)dup
NC_000004.11:g.(?_120057661)_(120107375_?)dup
NC_000004.11:g.(?_120057667)_(120108944_?)dup
NC_000004.11:g.(?_120057671)_(120057766_?)dup
NC_000004.11:g.(?_120057671)_(120107365_?)dup
NC_000004.11:g.(?_120057681)_(120057776_?)dup
NC_000004.11:g.(?_120057681)_(120107355_?)del
NC_000004.11:g.(?_120057681)_(120107355_?)dup
NC_000004.11:g.(?_120072007)_(120079326_?)del
NC_000004.11:g.(?_120072007)_(120085569_?)dup
NC_000004.11:g.(?_120095665)_(120107238_?)del
NC_000004.11:g.(?_120107101)_(120107355_?)dup
NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?))
NM_016599.5(MYOZ2):c.*1262del rs533440962
NM_016599.5(MYOZ2):c.*1262dup rs533440962
NM_016599.5(MYOZ2):c.*4G>T rs1561137822
NM_016599.5(MYOZ2):c.-15+11dup rs58371596
NM_016599.5(MYOZ2):c.-3A>G rs372377840
NM_016599.5(MYOZ2):c.-3dup rs397517288
NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu) rs763449906
NM_016599.5(MYOZ2):c.119G>A (p.Arg40Lys) rs1453257683
NM_016599.5(MYOZ2):c.120A>G (p.Arg40=)
NM_016599.5(MYOZ2):c.124A>T (p.Ile42Phe) rs1741435053
NM_016599.5(MYOZ2):c.126C>T (p.Ile42=)
NM_016599.5(MYOZ2):c.128T>C (p.Met43Thr)
NM_016599.5(MYOZ2):c.129G>C (p.Met43Ile) rs2476784135
NM_016599.5(MYOZ2):c.132G>T (p.Leu44Phe) rs1578729926
NM_016599.5(MYOZ2):c.135del (p.Glu46fs) rs2476784146
NM_016599.5(MYOZ2):c.136G>T (p.Glu46Ter) rs2149221447
NM_016599.5(MYOZ2):c.141A>T (p.Leu47Phe) rs1578729937
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro) rs199476398
NM_016599.5(MYOZ2):c.153T>C (p.Ser51=)
NM_016599.5(MYOZ2):c.156C>A (p.Asn52Lys) rs1578729969
NM_016599.5(MYOZ2):c.157C>G (p.Arg53Gly) rs758181218
NM_016599.5(MYOZ2):c.159T>C (p.Arg53=) rs1578729988
NM_016599.5(MYOZ2):c.168G>A (p.Arg56=)
NM_016599.5(MYOZ2):c.168G>C (p.Arg56Ser)
NM_016599.5(MYOZ2):c.171A>C (p.Leu57=)
NM_016599.5(MYOZ2):c.171A>G (p.Leu57=)
NM_016599.5(MYOZ2):c.177G>C (p.Lys59Asn) rs2149221471
NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu) rs2149221474
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
NM_016599.5(MYOZ2):c.180G>A (p.Met60Ile) rs2149221476
NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly) rs755233280
NM_016599.5(MYOZ2):c.183T>A (p.Arg61=)
NM_016599.5(MYOZ2):c.191G>A (p.Arg64Lys) rs1553958177
NM_016599.5(MYOZ2):c.193T>G (p.Ser65Ala) rs2476784294
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu) rs368392953
NM_016599.5(MYOZ2):c.204C>T (p.Tyr68=) rs1741437915
NM_016599.5(MYOZ2):c.207A>C (p.Thr69=) rs774782954
NM_016599.5(MYOZ2):c.217T>A (p.Phe73Ile) rs2476784319
NM_016599.5(MYOZ2):c.222G>T (p.Gln74His) rs768381091
NM_016599.5(MYOZ2):c.242T>C (p.Ile81Thr) rs1741439343
NM_016599.5(MYOZ2):c.246+130_246+131del rs34497965
NM_016599.5(MYOZ2):c.246+131del rs34497965
NM_016599.5(MYOZ2):c.246+16A>G
NM_016599.5(MYOZ2):c.246+4G>A rs2476784418
NM_016599.5(MYOZ2):c.251G>A (p.Ser84Asn)
NM_016599.5(MYOZ2):c.251G>C (p.Ser84Thr) rs1741621285
NM_016599.5(MYOZ2):c.252T>C (p.Ser84=) rs2529770523
NM_016599.5(MYOZ2):c.253A>C (p.Ile85Leu) rs2529770529
NM_016599.5(MYOZ2):c.259A>G (p.Met87Val) rs1741621672
NM_016599.5(MYOZ2):c.263A>G (p.Gln88Arg)
NM_016599.5(MYOZ2):c.268G>A (p.Gly90Arg) rs1035375546
NM_016599.5(MYOZ2):c.272A>G (p.Lys91Arg) rs2529770563
NM_016599.5(MYOZ2):c.276G>A (p.Val92=)
NM_016599.5(MYOZ2):c.277G>A (p.Asp93Asn) rs753997345
NM_016599.5(MYOZ2):c.27G>C (p.Lys9Asn) rs765333692
NM_016599.5(MYOZ2):c.290T>C (p.Leu97Ser)
NM_016599.5(MYOZ2):c.293A>T (p.Glu98Val)
NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser) rs2529770609
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) rs138061447
NM_016599.5(MYOZ2):c.302C>T (p.Ser101Leu) rs138061447
NM_016599.5(MYOZ2):c.303G>T (p.Ser101=) rs527258961
NM_016599.5(MYOZ2):c.314C>G (p.Pro105Arg) rs863223717
NM_016599.5(MYOZ2):c.323C>T (p.Pro108Leu)
NM_016599.5(MYOZ2):c.327del (p.Asn110fs) rs2149223404
NM_016599.5(MYOZ2):c.328A>T (p.Asn110Tyr) rs1158075899
NM_016599.5(MYOZ2):c.331A>G (p.Thr111Ala) rs2529770678
NM_016599.5(MYOZ2):c.336A>G (p.Pro112=) rs774333721
NM_016599.5(MYOZ2):c.348C>G (p.Ser116Arg) rs2529770730
NM_016599.5(MYOZ2):c.358C>T (p.Pro120Ser) rs1741625308
NM_016599.5(MYOZ2):c.361G>A (p.Asp121Asn) rs2529770815
NM_016599.5(MYOZ2):c.367A>G (p.Ile123Val)
NM_016599.5(MYOZ2):c.36A>C (p.Lys12Asn) rs775592981
NM_016599.5(MYOZ2):c.371C>A (p.Ala124Asp)
NM_016599.5(MYOZ2):c.373C>G (p.Pro125Ala) rs2149223427
NM_016599.5(MYOZ2):c.373C>T (p.Pro125Ser) rs2149223427
NM_016599.5(MYOZ2):c.376+6C>T rs2149223432
NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys) rs1051918078
NM_016599.5(MYOZ2):c.390A>T (p.Pro130=) rs1578738374
NM_016599.5(MYOZ2):c.407C>T (p.Pro136Leu)
NM_016599.5(MYOZ2):c.411A>G (p.Glu137=)
NM_016599.5(MYOZ2):c.415T>A (p.Phe139Ile) rs1578738408
NM_016599.5(MYOZ2):c.419A>G (p.Asn140Ser) rs745351307
NM_016599.5(MYOZ2):c.430G>A (p.Val144Ile)
NM_016599.5(MYOZ2):c.439T>C (p.Tyr147His) rs141181373
NM_016599.5(MYOZ2):c.441C>T (p.Tyr147=) rs1337507818
NM_016599.5(MYOZ2):c.442T>C (p.Tyr148His) rs2529780295
NM_016599.5(MYOZ2):c.446A>G (p.Gln149Arg)
NM_016599.5(MYOZ2):c.447A>G (p.Gln149=) rs200077093
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) rs200077093
NM_016599.5(MYOZ2):c.456G>A (p.Trp152Ter) rs2529780375
NM_016599.5(MYOZ2):c.461A>G (p.Gln154Arg)
NM_016599.5(MYOZ2):c.464C>T (p.Ala155Val) rs137878426
NM_016599.5(MYOZ2):c.477T>A (p.Asp159Glu) rs1363936227
NM_016599.5(MYOZ2):c.47C>T (p.Thr16Ile) rs1408647865
NM_016599.5(MYOZ2):c.488T>G (p.Leu163Ter)
NM_016599.5(MYOZ2):c.494C>T (p.Ala165Val) rs2149225275
NM_016599.5(MYOZ2):c.499_501delinsAACTTTTCAAG (p.Tyr167fs) rs1741776648
NM_016599.5(MYOZ2):c.508C>T (p.Leu170Phe) rs1578738559
NM_016599.5(MYOZ2):c.517C>A (p.Pro173Thr) rs2149225285
NM_016599.5(MYOZ2):c.519T>C (p.Pro173=) rs749569189
NM_016599.5(MYOZ2):c.529G>T (p.Ala177Ser)
NM_016599.5(MYOZ2):c.531A>G (p.Ala177=)
NM_016599.5(MYOZ2):c.532G>C (p.Glu178Gln)
NM_016599.5(MYOZ2):c.547A>G (p.Arg183Gly) rs1741778219
NM_016599.5(MYOZ2):c.549G>C (p.Arg183Ser) rs1420374400
NM_016599.5(MYOZ2):c.55dup (p.Met19fs) rs1175205512
NM_016599.5(MYOZ2):c.560+14C>T
NM_016599.5(MYOZ2):c.560+1G>T rs760946395
NM_016599.5(MYOZ2):c.560+2T>C
NM_016599.5(MYOZ2):c.561-13dup rs112369914
NM_016599.5(MYOZ2):c.561-14_561-13dup rs112369914
NM_016599.5(MYOZ2):c.561-5C>T rs2529809543
NM_016599.5(MYOZ2):c.561-7C>T rs863224424
NM_016599.5(MYOZ2):c.562G>A (p.Val188Ile) rs2149230757
NM_016599.5(MYOZ2):c.56T>C (p.Met19Thr)
NM_016599.5(MYOZ2):c.577G>A (p.Gly193Arg) rs2529809570
NM_016599.5(MYOZ2):c.581G>A (p.Gly194Asp) rs1578374252
NM_016599.5(MYOZ2):c.585T>A (p.Phe195Leu)
NM_016599.5(MYOZ2):c.591del (p.Ala198fs) rs1742285153
NM_016599.5(MYOZ2):c.592G>T (p.Ala198Ser) rs1175731703
NM_016599.5(MYOZ2):c.654G>T (p.Arg218Ser) rs1218433680
NM_016599.5(MYOZ2):c.657T>C (p.Phe219=) rs1742286722
NM_016599.5(MYOZ2):c.662C>G (p.Ser221Cys)
NM_016599.5(MYOZ2):c.669C>T (p.Val223=)
NM_016599.5(MYOZ2):c.682G>A (p.Gly228Ser) rs2529809764
NM_016599.5(MYOZ2):c.684C>T (p.Gly228=) rs1257308572
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_016599.5(MYOZ2):c.693C>A (p.Ser231=)
NM_016599.5(MYOZ2):c.693C>T (p.Ser231=) rs777496656
NM_016599.5(MYOZ2):c.703A>G (p.Thr235Ala) rs2529809807
NM_016599.5(MYOZ2):c.705T>C (p.Thr235=) rs1578374385
NM_016599.5(MYOZ2):c.706C>A (p.Pro236Thr) rs746162581
NM_016599.5(MYOZ2):c.706C>T (p.Pro236Ser) rs746162581
NM_016599.5(MYOZ2):c.711G>C (p.Lys237Asn) rs2529809834
NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val) rs1064796685
NM_016599.5(MYOZ2):c.724G>A (p.Glu242Lys) rs1742288958
NM_016599.5(MYOZ2):c.737T>C (p.Ile246Thr) rs2529809875
NM_016599.5(MYOZ2):c.747A>C (p.Thr249=) rs2529809889
NM_016599.5(MYOZ2):c.748A>C (p.Thr250Pro) rs770347077
NM_016599.5(MYOZ2):c.76+178C>G rs192214959
NM_016599.5(MYOZ2):c.760G>A (p.Asp254Asn) rs1742290113
NM_016599.5(MYOZ2):c.767C>G (p.Thr256Ser) rs1475858384
NM_016599.5(MYOZ2):c.77-14A>G rs397517291
NM_016599.5(MYOZ2):c.77-18A>G rs2476784009
NM_016599.5(MYOZ2):c.77-5dup rs1303598777
NM_016599.5(MYOZ2):c.77-9G>A rs2149221401
NM_016599.5(MYOZ2):c.772G>C (p.Val258Leu)
NM_016599.5(MYOZ2):c.787G>A (p.Asp263Asn) rs1553960195
NM_016599.5(MYOZ2):c.790C>G (p.Leu264Val) rs2529809938
NM_016599.5(MYOZ2):c.792A>G (p.Leu264=) rs1355854115
NM_016599.5(MYOZ2):c.81T>A (p.Val27=)
NM_016599.5(MYOZ2):c.83A>G (p.Asp28Gly)
NM_016599.5(MYOZ2):c.84T>C (p.Asp28=) rs397517292
NM_016599.5(MYOZ2):c.85G>A (p.Gly29Ser) rs2476784060
NM_016599.5(MYOZ2):c.88A>G (p.Met30Val) rs1561110024
NM_016599.5(MYOZ2):c.99C>A (p.Gly33=)
Single allele

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