ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921 0.00032
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 0.00004
NM_017668.3(NDE1):c.*631A>G rs373371913 0.00004
NM_002474.3(MYH11):c.4255G>C (p.Glu1419Gln) rs567729923 0.00001
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val) rs1365841164 0.00001
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys) rs748529935
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg) rs1555551464
NM_002474.3(MYH11):c.5722G>A (p.Asp1908Asn) rs1176411300
NM_017668.3(NDE1):c.*755G>A rs763714252
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850

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.