ClinVar Miner

List of variants in gene MYH3 reported as benign for Sheldon-hall syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
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.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.2683-4T>C rs182229640 0.00350
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_002470.4(MYH3):c.1960-8del rs3216884
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.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.