ClinVar Miner

List of variants in gene MYH3 reported as benign for arthrogryposis syndrome

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.4957-16G>C rs2239936 0.78067
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.534-44T>C rs1989810 0.63169
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
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.1141+32G>A rs2239934 0.57301
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.4956+32C>T rs4792008 0.57288
NM_002470.4(MYH3):c.1003-22C>T rs2239933 0.57286
NM_002470.4(MYH3):c.349-43C>T rs2285466 0.57166
NM_002470.4(MYH3):c.349-76T>C rs71360285 0.52372
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=) rs201626 0.14064
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
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_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_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_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_002470.4(MYH3):c.2683-4T>C rs182229640 0.00350
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_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_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.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.3137G>A (p.Arg1046Gln) rs142002449 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_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.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.1703A>G (p.Lys568Arg) rs200780612 0.00007
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_002470.4(MYH3):c.2517C>A (p.Pro839=) rs577088293 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.3139G>A (p.Val1047Ile) rs542491960 0.00003
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.571C>T (p.Arg191Trp) rs368171012 0.00002
NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys) rs761684970 0.00001
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) rs199513213
NM_002470.4(MYH3):c.2682+30_2682+31del rs34274020
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002470.4(MYH3):c.349-94dup rs370073463
NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu) rs373367650
NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr) rs752510156
NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg) rs537656234
NM_002470.4(MYH3):c.4957-115CAAAA[3] rs137999435
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5562+11C>T rs376208076
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114

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