ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_001243766.1(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_001243766.1(POMGNT1):c.1285-2A>G rs386834012
NM_001243766.1(POMGNT1):c.1482C>T (p.Asp494=) rs769213562
NM_001243766.1(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_001243766.1(POMGNT1):c.1540-6C>T rs770449394
NM_001243766.1(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_001243766.1(POMGNT1):c.1738C>A (p.Arg580=) rs386834018
NM_001243766.1(POMGNT1):c.1869+27G>T rs386834024
NM_001243766.1(POMGNT1):c.1901T>G (p.Phe634Cys) rs199534074
NM_001243766.1(POMGNT1):c.2147C>T (p.Ala716Val) rs148903585
NM_001243766.1(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_001243766.1(POMGNT1):c.420G>A (p.Thr140=) rs146237009
NM_001243766.1(POMGNT1):c.421-7C>A rs189274856
NM_001243766.1(POMGNT1):c.486A>G (p.Leu162=) rs138330966
NM_001243766.1(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665
NM_001243766.1(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888
NM_001243766.1(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589
NM_001243766.1(POMGNT1):c.960C>G (p.Arg320=) rs146933218
NM_017739.3(POMGNT1):c.751+1G>A rs1247668825
NM_017739.3(POMGNT1):c.927del (p.Asn310fs) rs1557674267
NM_017739.4(POMGNT1):c.*207G>A
NM_017739.4(POMGNT1):c.*221G>A
NM_017739.4(POMGNT1):c.*34G>A
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=)
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)
NM_017739.4(POMGNT1):c.752-15G>A
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys)

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.