ClinVar Miner

List of variants reported as uncertain significance for Distal arthrogryposis type 2B1

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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
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.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.-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.5161-13C>T rs201674457 0.00026
NM_002470.4(MYH3):c.3468C>T (p.Gly1156=) rs193224181 0.00023
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.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.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.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_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.3173G>A (p.Gly1058Glu) rs886052582
NM_002470.4(MYH3):c.3439C>A (p.Leu1147Met) rs886052581
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.4129G>C (p.Glu1377Gln) rs1567553702
NM_002470.4(MYH3):c.440A>G (p.Lys147Arg) rs886052588
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.4826G>A (p.Arg1609Lys) rs1555525264
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.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_003282.4(TNNI2):c.275_276+1del
NM_003282.4(TNNI2):c.368T>C (p.Leu123Pro) rs2133035437
NM_003282.4(TNNI2):c.530T>C (p.Met177Thr) rs1847183050
NM_003282.4(TNNI2):c.532T>A (p.Phe178Ile) rs2133036152
NM_003282.4(TNNI2):c.9-1G>C
NM_006757.4(TNNT3):c.*62G>T rs886048105
NM_006757.4(TNNT3):c.-22G>T rs879755445
NM_006757.4(TNNT3):c.480+8C>T rs370243709
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
NM_006757.4(TNNT3):c.757G>C (p.Val253Leu) rs1855793483
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943

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