ClinVar Miner

List of variants studied for microvillus inclusion disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 378
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.376A>G (p.Thr126Ala) rs1815930 0.97586
NM_001080467.3(MYO5B):c.1905+28T>C rs1790797 0.72377
NM_001080467.3(MYO5B):c.1668+23C>T rs1787299 0.58697
NM_001080467.3(MYO5B):c.*308C>T rs555879 0.53747
NM_001080467.3(MYO5B):c.2049G>A (p.Val683=) rs2298628 0.48893
NM_001080467.3(MYO5B):c.1545+11T>C rs17715416 0.33063
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_001080467.3(MYO5B):c.3603+33A>G rs3826580 0.23559
NM_001080467.3(MYO5B):c.3591C>T (p.Tyr1197=) rs3826579 0.23556
NM_001080467.3(MYO5B):c.3276+11T>C rs2276176 0.22610
NM_001080467.3(MYO5B):c.*965A>T rs72642495 0.20122
NM_001080467.3(MYO5B):c.4464G>A (p.Leu1488=) rs2276170 0.12248
NM_001080467.3(MYO5B):c.2753G>A (p.Arg918His) rs2298624 0.11570
NM_001080467.3(MYO5B):c.*1921G>C rs111319402 0.11314
NM_001080467.3(MYO5B):c.-98C>T rs111999307 0.09556
NM_001080467.3(MYO5B):c.756+6T>C rs16951370 0.09148
NM_001080467.3(MYO5B):c.2004-14T>C rs200222654 0.08496
NM_001080467.3(MYO5B):c.*979G>A rs74515646 0.08075
NM_001080467.3(MYO5B):c.3962G>A (p.Gly1321Glu) rs1942418 0.07389
NM_001080467.3(MYO5B):c.*371T>C rs4127441 0.06808
NM_001080467.3(MYO5B):c.*707T>C rs12457962 0.06804
NM_001080467.3(MYO5B):c.*873G>A rs4638687 0.06800
NM_001080467.3(MYO5B):c.*3065T>C rs78201339 0.06384
NM_001080467.3(MYO5B):c.921G>T (p.Lys307Asn) rs17659179 0.04692
NM_001080467.3(MYO5B):c.456-10T>C rs62620046 0.04071
NM_001080467.3(MYO5B):c.3396+9T>C rs75971548 0.03854
NM_001080467.3(MYO5B):c.1968C>T (p.Arg656=) rs1627232 0.02764
NM_001080467.3(MYO5B):c.1206C>T (p.Asn402=) rs11082795 0.02361
NM_001080467.3(MYO5B):c.*2747A>C rs11876859 0.02257
NM_001080467.3(MYO5B):c.*3273G>A rs9947739 0.02247
NM_001080467.3(MYO5B):c.5062A>G (p.Met1688Val) rs112417235 0.02197
NM_001080467.3(MYO5B):c.5433A>C (p.Leu1811=) rs78657366 0.02050
NM_001080467.3(MYO5B):c.1323-10C>T rs16951326 0.01937
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly) rs16951438 0.01776
NM_001080467.3(MYO5B):c.176T>C (p.Leu59Pro) rs78626055 0.01741
NM_001080467.3(MYO5B):c.*164T>G rs3208550 0.01554
NM_001080467.3(MYO5B):c.897G>T (p.Val299=) rs7240377 0.01310
NM_001080467.3(MYO5B):c.145G>C (p.Glu49Gln) rs141998504 0.01150
NM_001080467.3(MYO5B):c.*1614T>C rs111994054 0.01125
NM_001080467.3(MYO5B):c.2004-15T>C rs764748524 0.01062
NM_001080467.3(MYO5B):c.*1610G>C rs148887718 0.00836
NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu) rs75107667 0.00802
NM_001080467.3(MYO5B):c.*1142A>C rs146397214 0.00739
NM_001080467.3(MYO5B):c.*1404T>C rs113054799 0.00736
NM_001080467.3(MYO5B):c.*1272A>C rs114133687 0.00732
NM_001080467.3(MYO5B):c.*2645T>G rs140855200 0.00732
NM_001080467.3(MYO5B):c.*108C>A rs112174362 0.00729
NM_001080467.3(MYO5B):c.20A>G (p.Tyr7Cys) rs190674457 0.00708
NM_001080467.3(MYO5B):c.5048A>G (p.Lys1683Arg) rs9950781 0.00683
NM_001080467.3(MYO5B):c.*3368G>C rs9947614 0.00671
NM_001080467.3(MYO5B):c.*2283T>C rs59318525 0.00667
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=) rs61737443 0.00628
NM_001080467.3(MYO5B):c.4145C>T (p.Thr1382Met) rs145598498 0.00607
NM_001080467.3(MYO5B):c.3363C>T (p.Ile1121=) rs28637129 0.00589
NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=) rs200559863 0.00470
NM_001080467.3(MYO5B):c.*202T>G rs73436344 0.00465
NM_001080467.3(MYO5B):c.*2538G>A rs183150275 0.00425
NM_001080467.3(MYO5B):c.*3126A>C rs183415958 0.00406
NM_001080467.3(MYO5B):c.4315+9G>T rs113660613 0.00392
NM_001080467.3(MYO5B):c.2203-7T>C rs151267350 0.00376
NM_001080467.3(MYO5B):c.5395-6C>T rs140275825 0.00317
NM_001080467.3(MYO5B):c.1057-4A>G rs138582195 0.00231
NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu) rs139632666 0.00202
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn) rs61737448 0.00187
NM_001080467.3(MYO5B):c.2125G>A (p.Val709Met) rs192207329 0.00175
NM_001080467.3(MYO5B):c.3828C>T (p.Leu1276=) rs201760142 0.00175
NM_001080467.3(MYO5B):c.167G>T (p.Arg56Leu) rs138743872 0.00162
NM_001080467.3(MYO5B):c.*2293T>G rs57818618 0.00156
NM_001080467.3(MYO5B):c.1031G>A (p.Arg344His) rs189027956 0.00153
NM_001080467.3(MYO5B):c.3001A>T (p.Ile1001Phe) rs61737447 0.00139
NM_001080467.3(MYO5B):c.*958T>C rs143115573 0.00108
NM_001080467.3(MYO5B):c.4702-9C>T rs147405294 0.00108
NM_001080467.3(MYO5B):c.4674C>G (p.His1558Gln) rs186428920 0.00105
NM_001080467.3(MYO5B):c.3031G>A (p.Asp1011Asn) rs201592338 0.00103
NM_001080467.3(MYO5B):c.1323-15C>A rs183991942 0.00092
NM_001080467.3(MYO5B):c.2123G>A (p.Arg708Gln) rs201670299 0.00091
NM_001080467.3(MYO5B):c.1950G>A (p.Thr650=) rs180849030 0.00090
NM_001080467.3(MYO5B):c.1492G>A (p.Asp498Asn) rs200175136 0.00081
NM_001080467.3(MYO5B):c.*2098T>C rs1297286387 0.00075
NM_001080467.3(MYO5B):c.*829C>T rs189598795 0.00053
NM_001080467.3(MYO5B):c.*1728A>T rs138593222 0.00051
NM_001080467.3(MYO5B):c.*400G>A rs144380641 0.00048
NM_001080467.3(MYO5B):c.*2912T>C rs886053855 0.00047
NM_001080467.3(MYO5B):c.1786A>G (p.Lys596Glu) rs200548362 0.00044
NM_001080467.3(MYO5B):c.3488T>G (p.Leu1163Arg) rs201109748 0.00043
NM_001080467.3(MYO5B):c.2415-6C>G rs2298625 0.00041
NM_001080467.3(MYO5B):c.4240G>A (p.Glu1414Lys) rs76213287 0.00039
NM_001080467.3(MYO5B):c.3698G>T (p.Ser1233Ile) rs189721715 0.00036
NM_001080467.3(MYO5B):c.886A>G (p.Ile296Val) rs79714279 0.00036
NM_001080467.3(MYO5B):c.*866C>A rs886053867 0.00035
NM_001080467.3(MYO5B):c.*40G>A rs1058550 0.00031
NM_001080467.3(MYO5B):c.926G>A (p.Arg309Gln) rs200142429 0.00030
NM_001080467.3(MYO5B):c.*2571A>G rs190516330 0.00027
NM_001080467.3(MYO5B):c.-258T>G rs545858094 0.00026
NM_001080467.3(MYO5B):c.*552T>C rs768657150 0.00024
NM_001080467.3(MYO5B):c.2647C>T (p.Leu883=) rs375746475 0.00024
NM_001080467.3(MYO5B):c.28-6T>C rs373443648 0.00024
NM_001080467.3(MYO5B):c.4954T>A (p.Tyr1652Asn) rs201466306 0.00024
NM_001080467.3(MYO5B):c.839-11G>A rs369128969 0.00024
NM_001080467.3(MYO5B):c.*302A>G rs746672084 0.00023
NM_001080467.3(MYO5B):c.*666G>A rs117918775 0.00022
NM_001080467.3(MYO5B):c.1057-15C>T rs149299559 0.00022
NM_001080467.3(MYO5B):c.3647T>G (p.Leu1216Arg) rs201194311 0.00020
NM_001080467.3(MYO5B):c.3645C>T (p.Asp1215=) rs200991250 0.00019
NM_001080467.3(MYO5B):c.*3153T>C rs544138887 0.00018
NM_001080467.3(MYO5B):c.3130+14C>T rs374774816 0.00017
NM_001080467.3(MYO5B):c.*1967C>T rs192996713 0.00016
NM_001080467.3(MYO5B):c.*382C>T rs368154253 0.00016
NM_001080467.3(MYO5B):c.4460-11G>A rs373035489 0.00015
NM_001080467.3(MYO5B):c.2947G>C (p.Glu983Gln) rs371584389 0.00014
NM_001080467.3(MYO5B):c.891G>A (p.Glu297=) rs372125377 0.00014
NM_001080467.3(MYO5B):c.*464G>A rs886053868 0.00013
NM_001080467.3(MYO5B):c.2731C>T (p.Arg911Cys) rs370548179 0.00013
NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr) rs372432070 0.00012
NM_001080467.3(MYO5B):c.4445G>A (p.Arg1482Gln) rs201914259 0.00012
NM_001080467.3(MYO5B):c.*1839A>C rs926646406 0.00011
NM_001080467.3(MYO5B):c.*2550G>T rs113741260 0.00011
NM_001080467.3(MYO5B):c.*3124G>A rs188815832 0.00011
NM_001080467.3(MYO5B):c.2228G>A (p.Arg743His) rs368212890 0.00011
NM_001080467.3(MYO5B):c.378C>T (p.Thr126=) rs201531684 0.00011
NM_001080467.3(MYO5B):c.*1216A>C rs143821954 0.00010
NM_001080467.3(MYO5B):c.5449A>G (p.Met1817Val) rs200172993 0.00010
NM_001080467.3(MYO5B):c.*1718C>T rs1250533232 0.00009
NM_001080467.3(MYO5B):c.-48C>G rs534802208 0.00009
NM_001080467.3(MYO5B):c.2043C>T (p.Cys681=) rs2969930 0.00009
NM_001080467.3(MYO5B):c.5041G>T (p.Val1681Leu) rs200540643 0.00009
NM_001080467.3(MYO5B):c.576C>T (p.Ile192=) rs369744590 0.00009
NM_001080467.3(MYO5B):c.*737A>G rs781628891 0.00008
NM_001080467.3(MYO5B):c.471G>A (p.Gln157=) rs370574448 0.00007
NM_001080467.3(MYO5B):c.1215G>A (p.Ala405=) rs781209064 0.00006
NM_001080467.3(MYO5B):c.1322+12G>A rs202159934 0.00006
NM_001080467.3(MYO5B):c.2327G>A (p.Arg776Gln) rs183277668 0.00006
NM_001080467.3(MYO5B):c.2702G>A (p.Arg901Gln) rs199782770 0.00006
NM_001080467.3(MYO5B):c.3920A>G (p.Tyr1307Cys) rs774837934 0.00006
NM_001080467.3(MYO5B):c.455+8T>C rs373498192 0.00006
NM_001080467.3(MYO5B):c.5269G>A (p.Ala1757Thr) rs200931302 0.00006
NM_001080467.3(MYO5B):c.541G>A (p.Ala181Thr) rs377138861 0.00006
NM_001080467.3(MYO5B):c.*2534C>T rs111868213 0.00005
NM_001080467.3(MYO5B):c.*2537G>A rs113647716 0.00005
NM_001080467.3(MYO5B):c.2004-6T>C rs2969929 0.00005
NM_001080467.3(MYO5B):c.2090+15C>T rs752349961 0.00005
NM_001080467.3(MYO5B):c.2832T>G (p.Leu944=) rs199588107 0.00005
NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=) rs747139348 0.00005
NM_001080467.3(MYO5B):c.744A>G (p.Arg248=) rs368506553 0.00005
NM_001080467.3(MYO5B):c.807C>T (p.Ala269=) rs370357903 0.00005
NM_001080467.3(MYO5B):c.*1638C>T rs886053861 0.00004
NM_001080467.3(MYO5B):c.-85G>T rs1054535496 0.00004
NM_001080467.3(MYO5B):c.2572-5G>A rs749018115 0.00004
NM_001080467.3(MYO5B):c.2881C>T (p.Arg961Trp) rs556141097 0.00004
NM_001080467.3(MYO5B):c.3196C>T (p.Arg1066Trp) rs771709366 0.00004
NM_001080467.3(MYO5B):c.3460C>T (p.Arg1154Trp) rs775981130 0.00004
NM_001080467.3(MYO5B):c.4513C>T (p.Leu1505Phe) rs751931284 0.00004
NM_001080467.3(MYO5B):c.4834G>A (p.Val1612Met) rs746297387 0.00004
NM_001080467.3(MYO5B):c.*2215T>C rs886053858 0.00003
NM_001080467.3(MYO5B):c.*334A>G rs886053869 0.00003
NM_001080467.3(MYO5B):c.1125G>A (p.Trp375Ter) rs121908104 0.00003
NM_001080467.3(MYO5B):c.1322+11C>T rs142044259 0.00003
NM_001080467.3(MYO5B):c.2223T>G (p.Phe741Leu) rs199963863 0.00003
NM_001080467.3(MYO5B):c.2506C>T (p.Arg836Cys) rs569933953 0.00003
NM_001080467.3(MYO5B):c.4703G>A (p.Gly1568Asp) rs199737949 0.00003
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) rs753558336 0.00003
NM_001080467.3(MYO5B):c.*1039T>A rs886053866 0.00002
NM_001080467.3(MYO5B):c.*1340G>C rs908667040 0.00002
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) rs1298330895 0.00002
NM_001080467.3(MYO5B):c.1840G>A (p.Val614Ile) rs191746501 0.00002
NM_001080467.3(MYO5B):c.2407G>A (p.Ala803Thr) rs760481978 0.00002
NM_001080467.3(MYO5B):c.2572-6C>T rs1013131972 0.00002
NM_001080467.3(MYO5B):c.2812-3C>A rs371540311 0.00002
NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His) rs530758620 0.00002
NM_001080467.3(MYO5B):c.4440C>T (p.Leu1480=) rs777281668 0.00002
NM_001080467.3(MYO5B):c.5197G>A (p.Ala1733Thr) rs373990722 0.00002
NM_001080467.3(MYO5B):c.*1485G>A rs886053862 0.00001
NM_001080467.3(MYO5B):c.*205A>C rs886053871 0.00001
NM_001080467.3(MYO5B):c.*2259G>A rs886053857 0.00001
NM_001080467.3(MYO5B):c.*2511G>T rs796631271 0.00001
NM_001080467.3(MYO5B):c.*335T>C rs570544509 0.00001
NM_001080467.3(MYO5B):c.*3428T>C rs1190572023 0.00001
NM_001080467.3(MYO5B):c.*3640A>G rs1331960796 0.00001
NM_001080467.3(MYO5B):c.-108C>T rs1256314507 0.00001
NM_001080467.3(MYO5B):c.-176G>T rs886053883 0.00001
NM_001080467.3(MYO5B):c.1077C>A (p.Ser359Arg) rs755460184 0.00001
NM_001080467.3(MYO5B):c.1202G>A (p.Arg401His) rs1555648414 0.00001
NM_001080467.3(MYO5B):c.1287G>A (p.Lys429=) rs776027486 0.00001
NM_001080467.3(MYO5B):c.1302C>T (p.Ile434=) rs776785214 0.00001
NM_001080467.3(MYO5B):c.1303G>A (p.Gly435Arg) rs1283622290 0.00001
NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser) rs1315323909 0.00001
NM_001080467.3(MYO5B):c.1591C>T (p.Arg531Trp) rs374618270 0.00001
NM_001080467.3(MYO5B):c.159T>C (p.Asp53=) rs751520054 0.00001
NM_001080467.3(MYO5B):c.2003+2T>A rs727505394 0.00001
NM_001080467.3(MYO5B):c.2062C>T (p.Arg688Ter) rs1014035512 0.00001
NM_001080467.3(MYO5B):c.2326C>T (p.Arg776Trp) rs201966606 0.00001
NM_001080467.3(MYO5B):c.2479A>G (p.Arg827Gly) rs1291391204 0.00001
NM_001080467.3(MYO5B):c.2571+14C>T rs200805961 0.00001
NM_001080467.3(MYO5B):c.2579T>A (p.Met860Lys) rs539079604 0.00001
NM_001080467.3(MYO5B):c.275G>A (p.Arg92His) rs202205346 0.00001
NM_001080467.3(MYO5B):c.2966G>A (p.Arg989His) rs747276755 0.00001
NM_001080467.3(MYO5B):c.3277-2A>G rs1212171741 0.00001
NM_001080467.3(MYO5B):c.3418G>A (p.Ala1140Thr) rs1364064267 0.00001
NM_001080467.3(MYO5B):c.3892G>T (p.Val1298Phe) rs200181910 0.00001
NM_001080467.3(MYO5B):c.3945-9T>A rs759789311 0.00001
NM_001080467.3(MYO5B):c.4033G>A (p.Ala1345Thr) rs755338257 0.00001
NM_001080467.3(MYO5B):c.4123C>G (p.Gln1375Glu) rs765059688 0.00001
NM_001080467.3(MYO5B):c.4202G>A (p.Arg1401Gln) rs199722479 0.00001
NM_001080467.3(MYO5B):c.4611+2T>C rs757745239 0.00001
NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr) rs1166138315 0.00001
NM_001080467.3(MYO5B):c.648C>T (p.Asn216=) rs779466520 0.00001
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His) rs1053713532 0.00001
NM_001080467.3(MYO5B):c.808G>A (p.Gly270Ser) rs1047868917 0.00001
NM_001080467.3(MYO5B):c.9G>A (p.Val3=) rs538674235 0.00001
NM_001080467.3(MYO5B):c.*1014T>C rs2023831021
NM_001080467.3(MYO5B):c.*1227A>G rs2023827479
NM_001080467.3(MYO5B):c.*1328C>G rs2023826094
NM_001080467.3(MYO5B):c.*1451C>T rs2023824626
NM_001080467.3(MYO5B):c.*1526A>C rs2023823741
NM_001080467.3(MYO5B):c.*1610G>T rs148887718
NM_001080467.3(MYO5B):c.*1671G>T rs9959610
NM_001080467.3(MYO5B):c.*1771T>C rs373737044
NM_001080467.3(MYO5B):c.*1853G>C rs369655468
NM_001080467.3(MYO5B):c.*1896C>A rs79745077
NM_001080467.3(MYO5B):c.*1965C>T rs78555149
NM_001080467.3(MYO5B):c.*1975T>C rs75032645
NM_001080467.3(MYO5B):c.*1993C>G rs75305404
NM_001080467.3(MYO5B):c.*2009T>A rs79509391
NM_001080467.3(MYO5B):c.*2088A>G rs75318758
NM_001080467.3(MYO5B):c.*2114C>T rs1040969957
NM_001080467.3(MYO5B):c.*2129A>G rs73959721
NM_001080467.3(MYO5B):c.*2158G>A rs74651470
NM_001080467.3(MYO5B):c.*2171T>C rs886053859
NM_001080467.3(MYO5B):c.*2183C>T rs774764763
NM_001080467.3(MYO5B):c.*2187C>T rs375542187
NM_001080467.3(MYO5B):c.*2204T>C rs1045170751
NM_001080467.3(MYO5B):c.*2211T>C rs72925917
NM_001080467.3(MYO5B):c.*2219G>C rs72925916
NM_001080467.3(MYO5B):c.*2240A>C rs607552
NM_001080467.3(MYO5B):c.*2240A>G rs607552
NM_001080467.3(MYO5B):c.*2248C>T rs114048807
NM_001080467.3(MYO5B):c.*2256C>T rs78050801
NM_001080467.3(MYO5B):c.*2289C>A rs77330305
NM_001080467.3(MYO5B):c.*2316A>T rs74812451
NM_001080467.3(MYO5B):c.*2339T>C rs377539134
NM_001080467.3(MYO5B):c.*2347T>C rs374402517
NM_001080467.3(MYO5B):c.*2397T>C rs141004090
NM_001080467.3(MYO5B):c.*2465G>A rs140222157
NM_001080467.3(MYO5B):c.*2640G>A rs114480066
NM_001080467.3(MYO5B):c.*2646G>A rs796115232
NM_001080467.3(MYO5B):c.*2666A>C rs373899751
NM_001080467.3(MYO5B):c.*2672C>T rs375423515
NM_001080467.3(MYO5B):c.*2693T>C rs373513902
NM_001080467.3(MYO5B):c.*2695A>G rs369742971
NM_001080467.3(MYO5B):c.*2730C>A rs369797807
NM_001080467.3(MYO5B):c.*2825T>A rs373003146
NM_001080467.3(MYO5B):c.*2827A>G rs369480218
NM_001080467.3(MYO5B):c.*2828G>T rs375226833
NM_001080467.3(MYO5B):c.*2838C>A rs72925913
NM_001080467.3(MYO5B):c.*2860T>C rs72925912
NM_001080467.3(MYO5B):c.*2871G>C rs77754378
NM_001080467.3(MYO5B):c.*2896A>T rs372605995
NM_001080467.3(MYO5B):c.*2908C>T rs117972198
NM_001080467.3(MYO5B):c.*2910G>T rs116888891
NM_001080467.3(MYO5B):c.*2916A>C rs147973380
NM_001080467.3(MYO5B):c.*2919C>T rs115116077
NM_001080467.3(MYO5B):c.*2922C>T rs148796775
NM_001080467.3(MYO5B):c.*2923A>G rs144518115
NM_001080467.3(MYO5B):c.*2956G>A rs1167522718
NM_001080467.3(MYO5B):c.*2960T>C rs76811062
NM_001080467.3(MYO5B):c.*2974A>G rs115831173
NM_001080467.3(MYO5B):c.*3000C>T rs112057683
NM_001080467.3(MYO5B):c.*3049G>A rs1366788070
NM_001080467.3(MYO5B):c.*3073T>G rs73959716
NM_001080467.3(MYO5B):c.*309G>A rs886053870
NM_001080467.3(MYO5B):c.*3102C>A rs113215300
NM_001080467.3(MYO5B):c.*3149A>C rs368309880
NM_001080467.3(MYO5B):c.*3157G>C rs375530149
NM_001080467.3(MYO5B):c.*3158G>A rs372278198
NM_001080467.3(MYO5B):c.*3161A>C rs886053854
NM_001080467.3(MYO5B):c.*3188G>A rs75335611
NM_001080467.3(MYO5B):c.*3208T>C rs368561623
NM_001080467.3(MYO5B):c.*3213A>G rs201748833
NM_001080467.3(MYO5B):c.*3220C>T rs200885001
NM_001080467.3(MYO5B):c.*3239A>G rs1598810725
NM_001080467.3(MYO5B):c.*3273G>C rs9947739
NM_001080467.3(MYO5B):c.*3282G>A rs371042751
NM_001080467.3(MYO5B):c.*3292T>C rs368155236
NM_001080467.3(MYO5B):c.*3300A>G rs367570644
NM_001080467.3(MYO5B):c.*3315T>C rs558262946
NM_001080467.3(MYO5B):c.*3317C>T rs886053853
NM_001080467.3(MYO5B):c.*3341T>C rs371306335
NM_001080467.3(MYO5B):c.*3342C>G rs1342001906
NM_001080467.3(MYO5B):c.*3351A>C rs369420591
NM_001080467.3(MYO5B):c.*3357G>A rs1201555709
NM_001080467.3(MYO5B):c.*3364A>G rs777915881
NM_001080467.3(MYO5B):c.*3365T>C rs375545150
NM_001080467.3(MYO5B):c.*3379A>C rs371267343
NM_001080467.3(MYO5B):c.*3381G>C rs377694296
NM_001080467.3(MYO5B):c.*3391A>G rs373429782
NM_001080467.3(MYO5B):c.*3423G>T rs879173424
NM_001080467.3(MYO5B):c.*3544C>T rs1276336111
NM_001080467.3(MYO5B):c.*58C>T rs2023845967
NM_001080467.3(MYO5B):c.*68A>T rs886053872
NM_001080467.3(MYO5B):c.*99A>C rs11874243
NM_001080467.3(MYO5B):c.-177C>A rs369578654
NM_001080467.3(MYO5B):c.-242C>G rs576772655
NM_001080467.3(MYO5B):c.-93C>T rs1007521035
NM_001080467.3(MYO5B):c.1015G>C (p.Ala339Pro)
NM_001080467.3(MYO5B):c.1027G>A (p.Glu343Lys) rs2025802093
NM_001080467.3(MYO5B):c.1110_1113del (p.Ser370fs)
NM_001080467.3(MYO5B):c.1323-2A>G rs1568049625
NM_001080467.3(MYO5B):c.1363_1364insGTTCTGTAA (p.Cys454_Ile455insSerSerVal)
NM_001080467.3(MYO5B):c.1462del (p.Ile488fs)
NM_001080467.3(MYO5B):c.1540T>C (p.Cys514Arg) rs760515993
NM_001080467.3(MYO5B):c.1613T>C (p.Phe538Ser)
NM_001080467.3(MYO5B):c.1648A>T (p.Ile550Phe)
NM_001080467.3(MYO5B):c.1705A>T (p.Arg569Ter) rs1568045080
NM_001080467.3(MYO5B):c.1713G>C (p.Thr571=) rs185840586
NM_001080467.3(MYO5B):c.1744G>C (p.Ala582Pro)
NM_001080467.3(MYO5B):c.1753-4C>G rs2025263667
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter) rs753160864
NM_001080467.3(MYO5B):c.1906-1G>A
NM_001080467.3(MYO5B):c.1952C>G (p.Thr651Arg) rs886053882
NM_001080467.3(MYO5B):c.1966C>T (p.Arg656Cys) rs121908105
NM_001080467.3(MYO5B):c.1979C>T (p.Pro660Leu) rs121908106
NM_001080467.3(MYO5B):c.1983C>G (p.Asn661Lys)
NM_001080467.3(MYO5B):c.2090+3A>T rs2144194879
NM_001080467.3(MYO5B):c.2203-13C>T rs550696496
NM_001080467.3(MYO5B):c.2231C>T (p.Thr744Ile) rs886053880
NM_001080467.3(MYO5B):c.2259_2262dup (p.Tyr755fs) rs2144150824
NM_001080467.3(MYO5B):c.2330del (p.Gly777fs) rs1568025953
NM_001080467.3(MYO5B):c.2366G>A (p.Gly789Glu) rs756579504
NM_001080467.3(MYO5B):c.2411G>A (p.Arg804His) rs767203225
NM_001080467.3(MYO5B):c.2411G>T (p.Arg804Leu)
NM_001080467.3(MYO5B):c.242A>G (p.His81Arg) rs2144390167
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys) rs777038090
NM_001080467.3(MYO5B):c.2588A>G (p.Lys863Arg) rs886053879
NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter) rs1598870169
NM_001080467.3(MYO5B):c.266T>C (p.Leu89Ser)
NM_001080467.3(MYO5B):c.2723_2726dup (p.Glu909delinsAspTer)
NM_001080467.3(MYO5B):c.272T>C (p.Val91Ala) rs1165303022
NM_001080467.3(MYO5B):c.28-2A>G rs2144417768
NM_001080467.3(MYO5B):c.2803G>A (p.Asp935Asn) rs886053878
NM_001080467.3(MYO5B):c.284_285del (p.Glu95fs) rs2144390075
NM_001080467.3(MYO5B):c.297C>G (p.Ile99Met)
NM_001080467.3(MYO5B):c.311-1G>C rs1271807828
NM_001080467.3(MYO5B):c.3202C>T (p.Gln1068Ter)
NM_001080467.3(MYO5B):c.323T>G (p.Val108Gly) rs121908103
NM_001080467.3(MYO5B):c.3244G>A (p.Asp1082Asn) rs768704859
NM_001080467.3(MYO5B):c.3276+5G>A rs727505395
NM_001080467.3(MYO5B):c.3297G>T (p.Arg1099=) rs2024544820
NM_001080467.3(MYO5B):c.345G>T (p.Gln115His) rs2026454898
NM_001080467.3(MYO5B):c.3468G>A (p.Leu1156=) rs1193229060
NM_001080467.3(MYO5B):c.3638A>T (p.Lys1213Met) rs201651982
NM_001080467.3(MYO5B):c.3843+9A>T rs780988723
NM_001080467.3(MYO5B):c.3889C>T (p.His1297Tyr) rs886053877
NM_001080467.3(MYO5B):c.3917C>T (p.Ala1306Val) rs886053876
NM_001080467.3(MYO5B):c.3944+13C>T rs755692896
NM_001080467.3(MYO5B):c.4028T>C (p.Leu1343Pro) rs779188563
NM_001080467.3(MYO5B):c.4036C>T (p.Gln1346Ter) rs370647174
NM_001080467.3(MYO5B):c.4082T>C (p.Leu1361Pro)
NM_001080467.3(MYO5B):c.4090C>T (p.Gln1364Ter) rs1264355256
NM_001080467.3(MYO5B):c.4168C>T (p.Gln1390Ter)
NM_001080467.3(MYO5B):c.4315+5G>C rs488890
NM_001080467.3(MYO5B):c.4366C>T (p.Gln1456Ter) rs2144048741
NM_001080467.3(MYO5B):c.4460-1G>C rs2144041940
NM_001080467.3(MYO5B):c.4484G>T (p.Gly1495Val) rs2024085527
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) rs762039116
NM_001080467.3(MYO5B):c.4852+3A>T
NM_001080467.3(MYO5B):c.4853-15G>C rs886053874
NM_001080467.3(MYO5B):c.487G>A (p.Gly163Arg)
NM_001080467.3(MYO5B):c.4905del (p.Thr1636fs) rs1555793199
NM_001080467.3(MYO5B):c.5313+1G>C rs1555793103
NM_001080467.3(MYO5B):c.5313+6G>A rs886053873
NM_001080467.3(MYO5B):c.5411G>C (p.Arg1804Pro) rs201080553
NM_001080467.3(MYO5B):c.548T>C (p.Val183Ala)
NM_001080467.3(MYO5B):c.558G>A (p.Ser186=) rs577054276
NM_001080467.3(MYO5B):c.613-14_613-11del
NM_001080467.3(MYO5B):c.638G>A (p.Arg213His) rs557316656
NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val) rs971419104
NM_001080467.3(MYO5B):c.996C>A (p.Ile332=) rs16951352
NM_001080467.3(MYO5B):c.996C>T (p.Ile332=) rs16951352

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