ClinVar Miner

List of variants in gene MYH9 reported as uncertain significance for Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg) rs544801273 0.00011
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_002473.6(MYH9):c.5081G>A (p.Arg1694His) rs538330756 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln) rs200616409 0.00004
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002473.6(MYH9):c.5510T>G (p.Val1837Gly) rs1177354745 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_002473.6(MYH9):c.1730T>C (p.Val577Ala) rs1479935984 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln) rs754714910 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_002473.6(MYH9):c.5680C>A (p.Arg1894=) rs372051836 0.00001
NM_002473.6(MYH9):c.901C>T (p.Arg301Cys) rs2017230295 0.00001
NM_002473.6(MYH9):c.1124C>T (p.Ser375Phe) rs2146361194
NM_002473.6(MYH9):c.1306G>A (p.Ala436Thr) rs770360786
NM_002473.6(MYH9):c.1960C>G (p.Leu654Val) rs527418116
NM_002473.6(MYH9):c.2440C>T (p.Arg814Trp)
NM_002473.6(MYH9):c.2548A>G (p.Lys850Glu)
NM_002473.6(MYH9):c.3193G>T (p.Ala1065Ser)
NM_002473.6(MYH9):c.3196_3207del (p.Glu1066_Ala1069del) rs2146339816
NM_002473.6(MYH9):c.3428C>T (p.Ala1143Val) rs1004670927
NM_002473.6(MYH9):c.3451A>G (p.Thr1151Ala) rs2146338652
NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu) rs1603482935
NM_002473.6(MYH9):c.3838G>A (p.Val1280Met) rs141582478
NM_002473.6(MYH9):c.3868A>G (p.Ser1290Gly)
NM_002473.6(MYH9):c.4009G>C (p.Glu1337Gln)
NM_002473.6(MYH9):c.4024C>G (p.Arg1342Gly)
NM_002473.6(MYH9):c.4258C>G (p.Gln1420Glu)
NM_002473.6(MYH9):c.4261G>A (p.Glu1421Lys) rs1569534914
NM_002473.6(MYH9):c.4489C>T (p.Arg1497Trp)
NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln) rs1603482802
NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys)
NM_002473.6(MYH9):c.4691C>T (p.Ala1564Val)
NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr) rs1603482785
NM_002473.6(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.6(MYH9):c.5629C>T (p.Arg1877Trp)
NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val)
NM_002473.6(MYH9):c.5745C>G (p.Ser1915Arg)
NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu) rs142565774
NM_002473.6(MYH9):c.651C>A (p.Ile217=) rs2017270174
NM_002473.6(MYH9):c.658G>A (p.Ala220Thr) rs1556637683

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.