ClinVar Miner

List of variants in gene EHMT1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp) rs568424578 0.00008
NM_024757.5(EHMT1):c.2356G>A (p.Val786Met) rs398124405 0.00006
NM_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn) rs371824384 0.00004
NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser) rs754380060 0.00003
NM_024757.5(EHMT1):c.161C>T (p.Thr54Ile) rs757663357 0.00002
NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn) rs763562241 0.00002
NM_024757.5(EHMT1):c.3752G>T (p.Gly1251Val) rs1302317350 0.00002
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) rs1003872402 0.00002
NM_024757.5(EHMT1):c.1213G>A (p.Gly405Arg) rs766828352 0.00001
NM_024757.5(EHMT1):c.1444G>A (p.Val482Ile) rs1265023925 0.00001
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) rs756643740 0.00001
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750 0.00001
NM_024757.5(EHMT1):c.2443G>A (p.Glu815Lys) rs1443023108 0.00001
NM_024757.5(EHMT1):c.3193A>G (p.Ile1065Val) rs1444366252 0.00001
NM_024757.5(EHMT1):c.3212G>C (p.Ser1071Thr) rs1427438113 0.00001
NM_024757.5(EHMT1):c.3394C>T (p.Arg1132Trp) rs1230494244 0.00001
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp) rs760239482 0.00001
NM_024757.5(EHMT1):c.1109T>G (p.Phe370Cys)
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg) rs545055517
NM_024757.5(EHMT1):c.1502-5G>T
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) rs374930132
NM_024757.5(EHMT1):c.229G>C (p.Ala77Pro)
NM_024757.5(EHMT1):c.239A>T (p.Asn80Ile) rs754504122
NM_024757.5(EHMT1):c.2411A>G (p.Glu804Gly)
NM_024757.5(EHMT1):c.2687G>A (p.Gly896Asp) rs1953427756
NM_024757.5(EHMT1):c.2756T>A (p.Val919Glu) rs755525365
NM_024757.5(EHMT1):c.3110A>G (p.Asn1037Ser)
NM_024757.5(EHMT1):c.3113A>C (p.Tyr1038Ser)
NM_024757.5(EHMT1):c.3175C>G (p.Leu1059Val)
NM_024757.5(EHMT1):c.3191G>A (p.Cys1064Tyr)
NM_024757.5(EHMT1):c.3352C>T (p.Arg1118Cys) rs573020258
NM_024757.5(EHMT1):c.3544G>A (p.Gly1182Arg) rs2133151801
NM_024757.5(EHMT1):c.3573C>A (p.Phe1191Leu) rs1564845598
NM_024757.5(EHMT1):c.3577G>A (p.Gly1193Arg) rs1956451687
NM_024757.5(EHMT1):c.3784A>T (p.Lys1262Ter)
NM_024757.5(EHMT1):c.3880G>C (p.Ala1294Pro)
NM_024757.5(EHMT1):c.505C>G (p.Pro169Ala) rs770718072
NM_024757.5(EHMT1):c.533C>G (p.Thr178Ser) rs777497639
NM_024757.5(EHMT1):c.608C>T (p.Ala203Val) rs1564630797
NM_024757.5(EHMT1):c.632T>C (p.Val211Ala) rs764569458
NM_024757.5(EHMT1):c.793T>C (p.Cys265Arg)
NM_024757.5(EHMT1):c.799A>T (p.Met267Leu)
NM_024757.5(EHMT1):c.828C>G (p.Cys276Trp)
NM_024757.5(EHMT1):c.903G>T (p.Lys301Asn)
NM_024757.5(EHMT1):c.953G>A (p.Ser318Asn)
NM_024757.5(EHMT1):c.98C>G (p.Ala33Gly) rs1376776485

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.