List of variants in gene TMEM127 reported as likely benign for Hereditary cancer-predisposing syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 114

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017849.4(TMEM127):c.409+7C>T	rs189327749	0.00487
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)	rs121908823	0.00264
NM_017849.4(TMEM127):c.572C>T (p.Thr191Met)	rs200327514	0.00082
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)	rs121908819	0.00073
NM_017849.4(TMEM127):c.573G>A (p.Thr191=)	rs147816248	0.00028
NM_017849.4(TMEM127):c.565C>T (p.Leu189=)	rs146965678	0.00022
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)	rs373951977	0.00012
NM_017849.4(TMEM127):c.522C>T (p.Ala174=)	rs367951215	0.00009
NM_017849.4(TMEM127):c.324C>T (p.Leu108=)	rs148381232	0.00007
NM_017849.4(TMEM127):c.348T>C (p.Phe116=)	rs926978443	0.00005
NM_017849.4(TMEM127):c.213G>A (p.Val71=)	rs777169152	0.00004
NM_017849.4(TMEM127):c.270G>T (p.Val90=)	rs748896126	0.00004
NM_017849.4(TMEM127):c.393C>T (p.Phe131=)	rs756680897	0.00004
NM_017849.4(TMEM127):c.519C>T (p.Phe173=)	rs758676810	0.00004
NM_017849.4(TMEM127):c.672T>C (p.Tyr224=)	rs201935270	0.00003
NM_017849.4(TMEM127):c.267A>G (p.Thr89=)	rs773384410	0.00002
NM_017849.4(TMEM127):c.327C>T (p.Ser109=)	rs773650718	0.00002
NM_017849.4(TMEM127):c.438T>C (p.Phe146=)	rs774321958	0.00002
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=)	rs768545721	0.00002
NM_017849.4(TMEM127):c.486G>A (p.Lys162=)	rs536032990	0.00002
NM_017849.4(TMEM127):c.489G>A (p.Lys163=)	rs757792507	0.00002
NM_017849.4(TMEM127):c.129G>A (p.Ala43=)	rs1478096731	0.00001
NM_017849.4(TMEM127):c.130C>T (p.Leu44=)	rs754493061	0.00001
NM_017849.4(TMEM127):c.204C>T (p.Val68=)	rs775642794	0.00001
NM_017849.4(TMEM127):c.245-3C>T	rs181429509	0.00001
NM_017849.4(TMEM127):c.245-4A>G	rs962270831	0.00001
NM_017849.4(TMEM127):c.313C>T (p.Leu105=)	rs754465684	0.00001
NM_017849.4(TMEM127):c.315G>T (p.Leu105=)	rs1440094325	0.00001
NM_017849.4(TMEM127):c.330T>C (p.Ala110=)	rs1157106593	0.00001
NM_017849.4(TMEM127):c.333C>T (p.Phe111=)	rs1467642553	0.00001
NM_017849.4(TMEM127):c.354G>A (p.Pro118=)	rs1392614291	0.00001
NM_017849.4(TMEM127):c.384C>T (p.Arg128=)	rs755188175	0.00001
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr)	rs750870974	0.00001
NM_017849.4(TMEM127):c.408G>T (p.Thr136=)	rs143522428	0.00001
NM_017849.4(TMEM127):c.411T>A (p.Val137=)	rs760099422	0.00001
NM_017849.4(TMEM127):c.435C>G (p.Gly145=)	rs761795793	0.00001
NM_017849.4(TMEM127):c.468C>A (p.Ala156=)	rs749579854	0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)	rs550833832	0.00001
NM_017849.4(TMEM127):c.585C>T (p.Leu195=)	rs758874572	0.00001
NM_017849.4(TMEM127):c.633C>T (p.Leu211=)	rs368792184	0.00001
NM_017849.4(TMEM127):c.651C>T (p.Asn217=)	rs759801591	0.00001
NM_017849.4(TMEM127):c.654G>A (p.Glu218=)	rs776822044	0.00001
NM_017849.4(TMEM127):c.657C>T (p.Pro219=)	rs1213216357	0.00001
NM_017849.4(TMEM127):c.663G>A (p.Pro221=)	rs377760956	0.00001
NM_017849.4(TMEM127):c.666G>A (p.Ala222=)	rs772481029	0.00001
NM_017849.4(TMEM127):c.126G>A (p.Thr42=)	rs1573977835
NM_017849.4(TMEM127):c.141C>T (p.Ala47=)
NM_017849.4(TMEM127):c.144C>T (p.Leu48=)	rs1684391372
NM_017849.4(TMEM127):c.153C>G (p.Pro51=)	rs1573977758
NM_017849.4(TMEM127):c.153C>T (p.Pro51=)	rs1573977758
NM_017849.4(TMEM127):c.165C>T (p.His55=)
NM_017849.4(TMEM127):c.171C>T (p.His57=)	rs1573977723
NM_017849.4(TMEM127):c.186G>C (p.Ser62=)
NM_017849.4(TMEM127):c.195G>A (p.Glu65=)
NM_017849.4(TMEM127):c.198G>A (p.Leu66=)	rs2104307422
NM_017849.4(TMEM127):c.198G>T (p.Leu66=)
NM_017849.4(TMEM127):c.210C>T (p.Asp70=)	rs1553437721
NM_017849.4(TMEM127):c.214T>C (p.Leu72=)	rs1573977624
NM_017849.4(TMEM127):c.225G>A (p.Val75=)	rs1358019729
NM_017849.4(TMEM127):c.228C>T (p.His76=)
NM_017849.4(TMEM127):c.231G>A (p.Pro77=)	rs1558756480
NM_017849.4(TMEM127):c.231G>C (p.Pro77=)
NM_017849.4(TMEM127):c.231G>T (p.Pro77=)	rs1558756480
NM_017849.4(TMEM127):c.234C>T (p.Asp78=)	rs752578568
NM_017849.4(TMEM127):c.252C>T (p.Cys84=)
NM_017849.4(TMEM127):c.261C>T (p.Pro87=)
NM_017849.4(TMEM127):c.276C>T (p.Leu92=)	rs769267631
NM_017849.4(TMEM127):c.288C>T (p.Ile96=)	rs758726687
NM_017849.4(TMEM127):c.291C>G (p.Ala97=)	rs546105756
NM_017849.4(TMEM127):c.291C>T (p.Ala97=)	rs546105756
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)	rs369144563
NM_017849.4(TMEM127):c.294C>T (p.Ala98=)	rs1684173194
NM_017849.4(TMEM127):c.303C>T (p.Phe101=)
NM_017849.4(TMEM127):c.304C>T (p.Leu102=)
NM_017849.4(TMEM127):c.315G>A (p.Leu105=)	rs1440094325
NM_017849.4(TMEM127):c.327C>G (p.Ser109=)	rs773650718
NM_017849.4(TMEM127):c.363T>C (p.Pro121=)	rs1684170058
NM_017849.4(TMEM127):c.375C>T (p.Ile125=)	rs1260610916
NM_017849.4(TMEM127):c.378T>A (p.Thr126=)
NM_017849.4(TMEM127):c.378T>C (p.Thr126=)	rs770922577
NM_017849.4(TMEM127):c.387T>C (p.Tyr129=)
NM_017849.4(TMEM127):c.390C>T (p.Ala130=)
NM_017849.4(TMEM127):c.399T>C (p.His133=)
NM_017849.4(TMEM127):c.402C>A (p.Ile134=)	rs1553436974
NM_017849.4(TMEM127):c.408G>A (p.Thr136=)	rs143522428
NM_017849.4(TMEM127):c.414G>A (p.Leu138=)
NM_017849.4(TMEM127):c.432T>C (p.Ile144=)
NM_017849.4(TMEM127):c.456A>G (p.Glu152=)	rs1573969367
NM_017849.4(TMEM127):c.463T>C (p.Leu155=)	rs2104285151
NM_017849.4(TMEM127):c.492C>T (p.Tyr164=)
NM_017849.4(TMEM127):c.495T>C (p.His165=)
NM_017849.4(TMEM127):c.501C>G (p.Ser167=)	rs1269059052
NM_017849.4(TMEM127):c.501C>T (p.Ser167=)	rs1269059052
NM_017849.4(TMEM127):c.543A>G (p.Ala181=)	rs2104284290
NM_017849.4(TMEM127):c.549T>C (p.Ala183=)
NM_017849.4(TMEM127):c.552T>A (p.Gly184=)
NM_017849.4(TMEM127):c.555A>C (p.Gly185=)	rs2104284151
NM_017849.4(TMEM127):c.564C>A (p.Ile188=)
NM_017849.4(TMEM127):c.567G>A (p.Leu189=)	rs776732082
NM_017849.4(TMEM127):c.570C>T (p.Ala190=)	rs1553436857
NM_017849.4(TMEM127):c.586C>T (p.Leu196=)
NM_017849.4(TMEM127):c.588G>A (p.Leu196=)	rs1684146150
NM_017849.4(TMEM127):c.591C>T (p.Arg197=)
NM_017849.4(TMEM127):c.600C>A (p.Pro200=)	rs1060503974
NM_017849.4(TMEM127):c.609A>G (p.Glu203=)	rs750072653
NM_017849.4(TMEM127):c.621G>C (p.Ala207=)
NM_017849.4(TMEM127):c.624G>A (p.Leu208=)
NM_017849.4(TMEM127):c.630G>C (p.Leu210=)
NM_017849.4(TMEM127):c.669A>G (p.Glu223=)
NM_017849.4(TMEM127):c.675G>A (p.Glu225=)
NM_017849.4(TMEM127):c.684C>T (p.Asn228=)
NM_017849.4(TMEM127):c.690C>T (p.Phe230=)	rs1684140585
NM_017849.4(TMEM127):c.708C>T (p.Tyr236=)	rs2104282548
NM_017849.4(TMEM127):c.711A>G (p.Thr237=)	rs2104282530

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.