ClinVar Miner

List of variants in gene combination MYH2, MYHAS reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.878C>T (p.Thr293Ile) rs774544504 0.00031
NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp) rs191102801 0.00029
NM_017534.6(MYH2):c.2332C>T (p.Leu778Phe) rs751563313 0.00020
NM_017534.6(MYH2):c.3854G>A (p.Arg1285His) rs148326504 0.00017
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly) rs201784718 0.00016
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val) rs374630865 0.00009
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys) rs202006788 0.00008
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn) rs147439455 0.00007
NM_017534.6(MYH2):c.5171C>T (p.Thr1724Ile) rs202050465 0.00007
NM_017534.6(MYH2):c.74T>C (p.Ile25Thr) rs372837852 0.00007
NM_017534.6(MYH2):c.2391G>T (p.Arg797Ser) rs374943306 0.00006
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu) rs201925793 0.00006
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe) rs138265883 0.00006
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val) rs777266089 0.00006
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala) rs912089271 0.00006
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val) rs377385495 0.00005
NM_017534.6(MYH2):c.5539C>T (p.Arg1847Cys) rs774045866 0.00004
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His) rs777282924 0.00003
NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp) rs755265718 0.00003
NM_017534.6(MYH2):c.3539T>C (p.Met1180Thr) rs765925366 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln) rs201882457 0.00002
NM_017534.6(MYH2):c.1711G>A (p.Val571Met) rs778226679 0.00001
NM_017534.6(MYH2):c.1763T>C (p.Val588Ala) rs753668463 0.00001
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln) rs886043621 0.00001
NM_017534.6(MYH2):c.3574G>A (p.Glu1192Lys) rs780122233 0.00001
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys) rs374190003 0.00001
NM_017534.6(MYH2):c.4162C>T (p.Arg1388Cys) rs140775405 0.00001
NM_017534.6(MYH2):c.5347G>A (p.Ala1783Thr) rs759668950 0.00001
NM_017534.6(MYH2):c.5404C>T (p.Arg1802Cys) rs746710734 0.00001
NM_017534.6(MYH2):c.115T>C (p.Phe39Leu)
NM_017534.6(MYH2):c.1274A>G (p.Asn425Ser)
NM_017534.6(MYH2):c.1456G>C (p.Glu486Gln)
NM_017534.6(MYH2):c.1493T>C (p.Val498Ala) rs1567733956
NM_017534.6(MYH2):c.1595G>A (p.Gly532Asp)
NM_017534.6(MYH2):c.1667A>G (p.Tyr556Cys)
NM_017534.6(MYH2):c.1709A>G (p.Lys570Arg)
NM_017534.6(MYH2):c.2020C>T (p.His674Tyr) rs1555571125
NM_017534.6(MYH2):c.2078A>G (p.Glu693Gly)
NM_017534.6(MYH2):c.2306T>C (p.Val769Ala)
NM_017534.6(MYH2):c.2716G>A (p.Asp906Asn)
NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)
NM_017534.6(MYH2):c.3040G>T (p.Asp1014Tyr)
NM_017534.6(MYH2):c.3045C>A (p.Asp1015Glu)
NM_017534.6(MYH2):c.3250G>A (p.Glu1084Lys) rs2142299795
NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro) rs575266045
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
NM_017534.6(MYH2):c.4244C>T (p.Ala1415Val)
NM_017534.6(MYH2):c.472A>G (p.Ile158Val)
NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)

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.