ClinVar Miner

List of variants in gene EHMT1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877 0.00063
NM_024757.5(EHMT1):c.85+35G>A rs151087743 0.00046
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175 0.00029
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00022
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00014
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) rs112003143 0.00009
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) rs371136319 0.00009
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00007
NM_024757.5(EHMT1):c.3716+4C>T rs375271697 0.00007
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707 0.00006
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 0.00006
NM_024757.5(EHMT1):c.1054G>A (p.Asp352Asn) rs778201214 0.00004
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904 0.00004
NM_024757.5(EHMT1):c.3225C>T (p.Cys1075=) rs779760321 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668 0.00003
NM_024757.5(EHMT1):c.1710G>A (p.Pro570=) rs746769518 0.00003
NM_024757.5(EHMT1):c.1951G>A (p.Val651Met) rs188452845 0.00003
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=) rs374547003 0.00003
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=) rs747339529 0.00003
NM_024757.5(EHMT1):c.3684C>T (p.Ser1228=) rs777132995 0.00003
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341 0.00003
NM_024757.5(EHMT1):c.1481T>A (p.Ile494Asn) rs1344004596 0.00002
NM_024757.5(EHMT1):c.2142A>G (p.Gly714=) rs758845539 0.00002
NM_024757.5(EHMT1):c.2973G>A (p.Met991Ile) rs755184801 0.00002
NM_024757.5(EHMT1):c.3042C>T (p.Ile1014=) rs143083438 0.00002
NM_024757.5(EHMT1):c.1050G>A (p.Glu350=) rs149871742 0.00001
NM_024757.5(EHMT1):c.223G>C (p.Asp75His) rs777679735 0.00001
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441 0.00001
NM_024757.5(EHMT1):c.102C>T (p.Ala34=) rs202208554
NM_024757.5(EHMT1):c.1339A>C (p.Arg447=)
NM_024757.5(EHMT1):c.1654C>A (p.Arg552=)
NM_024757.5(EHMT1):c.1792-27_1792-26del
NM_024757.5(EHMT1):c.22-43600_22-43598del
NM_024757.5(EHMT1):c.2383-2064C>T
NM_024757.5(EHMT1):c.2712+2265C>T
NM_024757.5(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.390G>T (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.512C>A (p.Thr171Lys)
NM_024757.5(EHMT1):c.642+22C>G rs138785890
NM_024757.5(EHMT1):c.642+22C>T

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.