ClinVar Miner

List of variants in gene TGM6 reported as likely benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1705T>A (p.Tyr569Asn) rs142406714 0.00041
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser) rs200674917 0.00034
NM_198994.3(TGM6):c.1250C>T (p.Thr417Met) rs141071237 0.00016
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00014
NM_198994.3(TGM6):c.2078A>G (p.Asp693Gly) rs377479985 0.00013
NM_198994.3(TGM6):c.1158C>T (p.His386=) rs371763464 0.00011
NM_198994.3(TGM6):c.1678+8T>C rs369457769 0.00010
NM_198994.3(TGM6):c.743C>T (p.Pro248Leu) rs142013495 0.00010
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp) rs201326247 0.00007
NM_198994.3(TGM6):c.1226G>T (p.Ser409Ile) rs752095723 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_198994.3(TGM6):c.688G>A (p.Asp230Asn) rs147591485 0.00006
NM_198994.3(TGM6):c.2079C>T (p.Asp693=) rs61748828 0.00005
NM_198994.3(TGM6):c.1270A>C (p.Ile424Leu) rs745804281 0.00004
NM_198994.3(TGM6):c.1527C>T (p.His509=) rs748042241 0.00003
NM_198994.3(TGM6):c.2019C>T (p.Thr673=) rs779951018 0.00002
NM_198994.3(TGM6):c.1191C>T (p.Ala397=) rs147554438 0.00001
NM_198994.3(TGM6):c.1371G>A (p.Ala457=) rs187699549 0.00001
NM_198994.3(TGM6):c.687C>T (p.Asn229=) rs370489062 0.00001
NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs) rs2122409537

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.