ClinVar Miner

List of variants studied for Distal arthrogryposis type 2B1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=) rs201626 0.14064
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02219
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418 0.01571
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604 0.01272
NM_002470.4(MYH3):c.349-7C>T rs114366800 0.01261
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353 0.01244
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_002470.4(MYH3):c.774G>A (p.Lys258=) rs16943598 0.00793
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261 0.00792
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_002470.4(MYH3):c.453C>T (p.Ala151=) rs7214436 0.00621
NM_003282.4(TNNI2):c.150G>A (p.Pro50=) rs139820259 0.00584
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_003282.4(TNNI2):c.453+3G>A rs200300133 0.00354
NM_002470.4(MYH3):c.2683-4T>C rs182229640 0.00350
NM_003282.4(TNNI2):c.*94C>T rs117830156 0.00349
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_002470.4(MYH3):c.2926-8C>T rs188588330 0.00296
NM_002470.4(MYH3):c.4098T>C (p.Asn1366=) rs138944611 0.00291
NM_002470.4(MYH3):c.3594G>A (p.Ala1198=) rs139978727 0.00252
NM_002470.4(MYH3):c.5109G>A (p.Ala1703=) rs114770362 0.00250
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_002470.4(MYH3):c.1566C>A (p.Ile522=) rs146873206 0.00236
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_002470.4(MYH3):c.2289+4A>G rs111835858 0.00218
NM_002470.4(MYH3):c.-63G>A rs141754213 0.00209
NM_002470.4(MYH3):c.5067G>T (p.Leu1689=) rs112858125 0.00205
NM_002470.4(MYH3):c.1932C>T (p.Ser644=) rs115612890 0.00194
NM_006757.4(TNNT3):c.*36C>T rs147535560 0.00188
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_006757.4(TNNT3):c.480+10G>T rs188255267 0.00143
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_002470.4(MYH3):c.2883C>A (p.Thr961=) rs144338240 0.00096
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00092
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=) rs146773743 0.00063
NM_002470.4(MYH3):c.166C>G (p.Gln56Glu) rs143973840 0.00058
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002470.4(MYH3):c.4647+6T>G rs375163919 0.00054
NM_002470.4(MYH3):c.4635C>T (p.Leu1545=) rs74406856 0.00051
NM_002470.4(MYH3):c.3072C>G (p.Thr1024=) rs139544273 0.00050
NM_002470.4(MYH3):c.3270A>G (p.Gln1090=) rs144312976 0.00045
NM_002470.4(MYH3):c.5301G>A (p.Ala1767=) rs151028057 0.00045
NM_002470.4(MYH3):c.1881G>A (p.Thr627=) rs140144159 0.00035
NM_002470.4(MYH3):c.3729+9C>T rs201955505 0.00035
NM_002470.4(MYH3):c.1521C>T (p.Ile507=) rs140685610 0.00029
NM_002470.4(MYH3):c.412G>A (p.Glu138Lys) rs191837780 0.00029
NM_002470.4(MYH3):c.-44T>C rs886052590 0.00028
NM_002470.4(MYH3):c.3137G>A (p.Arg1046Gln) rs142002449 0.00028
NM_002470.4(MYH3):c.3532G>A (p.Asp1178Asn) rs199834077 0.00028
NM_002470.4(MYH3):c.5274G>A (p.Lys1758=) rs377092561 0.00028
NM_002470.4(MYH3):c.5161-13C>T rs201674457 0.00026
NM_002470.4(MYH3):c.3468C>T (p.Gly1156=) rs193224181 0.00023
NM_002470.4(MYH3):c.3389G>A (p.Arg1130His) rs184919169 0.00022
NM_003282.4(TNNI2):c.333A>G (p.Pro111=) rs201133081 0.00021
NM_002470.4(MYH3):c.5797-12C>G rs374799651 0.00018
NM_002470.4(MYH3):c.642+8T>C rs370685666 0.00018
NM_002470.4(MYH3):c.3993G>A (p.Ala1331=) rs137974114 0.00017
NM_002470.4(MYH3):c.4109C>T (p.Ala1370Val) rs200964415 0.00017
NM_002470.4(MYH3):c.*39G>A rs372305218 0.00016
NM_002470.4(MYH3):c.4810G>A (p.Ala1604Thr) rs201488879 0.00015
NM_002470.4(MYH3):c.*31T>G rs201532275 0.00014
NM_002470.4(MYH3):c.5231A>G (p.Asp1744Gly) rs200191762 0.00014
NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val) rs375904355 0.00013
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_002470.4(MYH3):c.5331C>T (p.Ser1777=) rs200111154 0.00010
NM_002470.4(MYH3):c.-31C>T rs762639909 0.00009
NM_002470.4(MYH3):c.1703A>G (p.Lys568Arg) rs200780612 0.00007
NM_002470.4(MYH3):c.297G>A (p.Glu99=) rs375498642 0.00006
NM_002470.4(MYH3):c.3039T>C (p.Ala1013=) rs142131471 0.00006
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=) rs201553125 0.00006
NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly) rs147304568 0.00006
NM_003282.4(TNNI2):c.-50G>A rs776016888 0.00006
NM_002470.4(MYH3):c.5253C>T (p.Asn1751=) rs751137584 0.00005
NM_003282.4(TNNI2):c.276+12C>T rs368363208 0.00005
NM_002470.4(MYH3):c.2486C>T (p.Pro829Leu) rs200652175 0.00004
NM_002470.4(MYH3):c.2517C>A (p.Pro839=) rs577088293 0.00004
NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys) rs147024680 0.00004
NM_002470.4(MYH3):c.4323C>T (p.Ala1441=) rs185355384 0.00004
NM_002470.4(MYH3):c.4941C>T (p.Val1647=) rs143855213 0.00004
NM_002470.4(MYH3):c.5286+6G>C rs576168867 0.00004
NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile) rs542491960 0.00003
NM_002470.4(MYH3):c.3883A>G (p.Lys1295Glu) rs886052580 0.00003
NM_002470.4(MYH3):c.4203C>T (p.Ser1401=) rs746562608 0.00003
NM_002470.4(MYH3):c.4752C>T (p.Ile1584=) rs189005323 0.00003
NM_003282.4(TNNI2):c.171C>A (p.Ser57=) rs753364763 0.00003
NM_006757.4(TNNT3):c.*151G>A rs544425439 0.00003
NM_006757.4(TNNT3):c.*86C>T rs200540491 0.00003
NM_002470.4(MYH3):c.1062G>A (p.Thr354=) rs746744341 0.00002
NM_002470.4(MYH3):c.1888+10G>A rs759205757 0.00002
NM_002470.4(MYH3):c.19A>G (p.Met7Val) rs191571748 0.00002
NM_002470.4(MYH3):c.2716T>A (p.Cys906Ser) rs367709724 0.00002
NM_002470.4(MYH3):c.5299G>A (p.Ala1767Thr) rs773612935 0.00002
NM_002470.4(MYH3):c.571C>T (p.Arg191Trp) rs368171012 0.00002
NM_003282.4(TNNI2):c.-68C>T rs370130164 0.00002
NM_002470.4(MYH3):c.1130A>G (p.Asp377Gly) rs750031446 0.00001
NM_002470.4(MYH3):c.1142-3C>G rs886052585 0.00001
NM_002470.4(MYH3):c.1582-6A>G rs767481624 0.00001
NM_002470.4(MYH3):c.1707G>A (p.Val569=) rs371043485 0.00001
NM_002470.4(MYH3):c.1872G>A (p.Thr624=) rs755306757 0.00001
NM_002470.4(MYH3):c.2175G>A (p.Val725=) rs750551043 0.00001
NM_002470.4(MYH3):c.2371G>A (p.Ala791Thr) rs886052583 0.00001
NM_002470.4(MYH3):c.298C>T (p.Pro100Ser) rs767400961 0.00001
NM_002470.4(MYH3):c.3252A>T (p.Lys1084Asn) rs1327044875 0.00001
NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys) rs761684970 0.00001
NM_002470.4(MYH3):c.4148G>A (p.Arg1383His) rs143574829 0.00001
NM_002470.4(MYH3):c.4238C>T (p.Ala1413Val) rs757083529 0.00001
NM_002470.4(MYH3):c.4734C>T (p.Ala1578=) rs765274435 0.00001
NM_002470.4(MYH3):c.505+12A>G rs200031876 0.00001
NM_002470.4(MYH3):c.509G>A (p.Arg170His) rs777914421 0.00001
NM_002470.4(MYH3):c.5674G>A (p.Ala1892Thr) rs780846542 0.00001
NM_002470.4(MYH3):c.800-5T>A rs755904046 0.00001
NM_006757.4(TNNT3):c.*57C>T rs772512169 0.00001
NM_006757.4(TNNT3):c.257A>G (p.Glu86Gly) rs755143093 0.00001
NM_006757.4(TNNT3):c.504G>A (p.Lys168=) rs1367784766 0.00001
NM_002470.4(MYH3):c.-9+4A>T rs886052589
NM_002470.4(MYH3):c.1211G>C (p.Arg404Thr) rs886052584
NM_002470.4(MYH3):c.1628A>T (p.Lys543Met) rs2074284177
NM_002470.4(MYH3):c.207C>G (p.Thr69=) rs1358533074
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) rs199513213
NM_002470.4(MYH3):c.2523C>T (p.Leu841=) rs755444923
NM_002470.4(MYH3):c.2813C>A (p.Thr938Lys) rs148835368
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3173G>A (p.Gly1058Glu) rs886052582
NM_002470.4(MYH3):c.3439C>A (p.Leu1147Met) rs886052581
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu) rs373367650
NM_002470.4(MYH3):c.3594G>T (p.Ala1198=) rs139978727
NM_002470.4(MYH3):c.3609G>A (p.Glu1203=) rs368299686
NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr) rs752510156
NM_002470.4(MYH3):c.3945G>A (p.Glu1315=) rs2074208929
NM_002470.4(MYH3):c.440A>G (p.Lys147Arg) rs886052588
NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg) rs537656234
NM_002470.4(MYH3):c.4529T>C (p.Ile1510Thr) rs1388984490
NM_002470.4(MYH3):c.4591A>G (p.Arg1531Gly) rs1485125112
NM_002470.4(MYH3):c.459C>T (p.Pro153=) rs886052587
NM_002470.4(MYH3):c.4647G>C (p.Glu1549Asp) rs886052579
NM_002470.4(MYH3):c.4778G>C (p.Arg1593Thr) rs781003211
NM_002470.4(MYH3):c.4957-5G>T rs2074165689
NM_002470.4(MYH3):c.5034A>G (p.Arg1678=) rs2074164241
NM_002470.4(MYH3):c.5052C>G (p.Ala1684=) rs149260479
NM_002470.4(MYH3):c.5134G>C (p.Glu1712Gln) rs376574468
NM_002470.4(MYH3):c.5250G>A (p.Arg1750=) rs1377740859
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5562+11C>T rs376208076
NM_002470.4(MYH3):c.5607G>T (p.Val1869=) rs753515010
NM_002470.4(MYH3):c.5669C>G (p.Ala1890Gly) rs886052578
NM_002470.4(MYH3):c.5804T>C (p.Val1935Ala) rs886052577
NM_002470.4(MYH3):c.910A>G (p.Ile304Val) rs886052586
NM_006757.4(TNNT3):c.*62G>T rs886048105
NM_006757.4(TNNT3):c.-22G>T rs879755445
NM_006757.4(TNNT3):c.491A>G (p.Lys164Arg) rs1161353535
NM_006757.4(TNNT3):c.496G>A (p.Gly166Ser) rs775584381
NM_006757.4(TNNT3):c.591-12C>T rs1854492172
NM_006757.4(TNNT3):c.668G>C (p.Arg223Pro) rs766691409

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