List of variants in gene TMEM67 reported as uncertain significance for not specified

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: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)	rs111619594	0.00089
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)	rs375991767	0.00023
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr)	rs748221725	0.00008
NM_153704.6(TMEM67):c.651+5G>A	rs970248353	0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)	rs202036490	0.00006
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)	rs771551765	0.00004
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala)	rs781383498	0.00002
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)	rs1281778614	0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	rs797046045	0.00001
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln)	rs750950408	0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His)	rs770605718	0.00001
NM_153704.6(TMEM67):c.-1C>T
NM_153704.6(TMEM67):c.1575+5G>A	rs1554555063
NM_153704.6(TMEM67):c.1676C>G (p.Thr559Arg)	rs1563470521
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	rs863225238
NM_153704.6(TMEM67):c.2184_2185insCACTGCACTCCAGCCTGGGTGACAGAGCGGGAC (p.Ser728_Cys729insHisCysThrProAlaTrpValThrGluArgAsp)
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser)	rs762543032
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro)	rs863225234
NM_153704.6(TMEM67):c.2661+3A>G	rs568703831
NM_153704.6(TMEM67):c.271G>A (p.Gly91Arg)	rs797046043
NM_153704.6(TMEM67):c.2806G>A (p.Glu936Lys)	rs797046044
NM_153704.6(TMEM67):c.2900A>C (p.Gln967Pro)	rs567042904
NM_153704.6(TMEM67):c.395G>C (p.Gly132Ala)

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.