ClinVar Miner

List of variants in gene TMC1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 9q21.13(chr9:75161655-75429310)x1
GRCh37/hg19 9q21.13(chr9:75274024-75318551)x1
NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_138691.2(TMC1):c.1143C>G (p.Tyr381Ter)
NM_138691.2(TMC1):c.1165C>T rs151001642
NM_138691.2(TMC1):c.1209G>A (p.Trp403Ter)
NM_138691.2(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_138691.2(TMC1):c.1224+2T>C rs1564555240
NM_138691.2(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.2(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.2(TMC1):c.1259G>A (p.Cys420Tyr) rs1564556995
NM_138691.2(TMC1):c.1532C>T (p.Pro511Leu) rs727503483
NM_138691.2(TMC1):c.1534C>T (p.Arg512Ter) rs200171616
NM_138691.2(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.2(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.2(TMC1):c.16+1G>T
NM_138691.2(TMC1):c.1676G>A (p.Trp559Ter) rs876657728
NM_138691.2(TMC1):c.1677G>A (p.Trp559Ter) rs876657729
NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.2(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_138691.2(TMC1):c.1728C>G (p.Asn576Lys)
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.1939T>C rs138527651
NM_138691.2(TMC1):c.1960A>G (p.Met654Val) rs121908074
NM_138691.2(TMC1):c.2130-1del rs1554731002
NM_138691.2(TMC1):c.215_219dup (p.Arg74fs) rs730880359
NM_138691.2(TMC1):c.2218G>T (p.Glu740Ter) rs1564583413
NM_138691.2(TMC1):c.229del (p.Arg77fs) rs878853230
NM_138691.2(TMC1):c.22del (p.Ile8fs) rs727504554
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_138691.2(TMC1):c.885-2A>C rs1564554148
NM_138691.2(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
NM_138691.2:c.(?_-52-7)_(16+6_?)del

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.