ClinVar Miner

List of variants in gene SLC34A3 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00021
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NM_001177316.2(SLC34A3):c.671del (p.Leu224fs) rs755196320 0.00003
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter) rs949841477 0.00001
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.1008_1009dup (p.Gly337fs) rs2131415051
NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs) rs750178720
NM_001177316.2(SLC34A3):c.1093+68_1106del rs2131416218
NM_001177316.2(SLC34A3):c.1168C>T (p.Gln390Ter) rs2131417221
NM_001177316.2(SLC34A3):c.1246del (p.Leu416fs)
NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs)
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs) rs757714479
NM_001177316.2(SLC34A3):c.1369G>A (p.Gly457Ser)
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001177316.2(SLC34A3):c.143del (p.Pro48fs) rs1564415555
NM_001177316.2(SLC34A3):c.145C>T (p.Gln49Ter) rs2131403056
NM_001177316.2(SLC34A3):c.1467_1477dup (p.Leu493fs)
NM_001177316.2(SLC34A3):c.1502del (p.Leu501fs) rs1836579405
NM_001177316.2(SLC34A3):c.1556del (p.Gly519fs)
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.1584_1585del (p.Ile529fs) rs2131425175
NM_001177316.2(SLC34A3):c.210del (p.Gly71fs) rs1064796402
NM_001177316.2(SLC34A3):c.292C>T (p.Gln98Ter)
NM_001177316.2(SLC34A3):c.711dup (p.Ile238fs) rs779140809
NM_001177316.2(SLC34A3):c.734del (p.Pro245fs) rs1169054324
NM_001177316.2(SLC34A3):c.734dup (p.Leu246fs)
NM_001177316.2(SLC34A3):c.841C>T (p.Gln281Ter)
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001177316.2(SLC34A3):c.944del (p.Gly315fs) rs1473689787

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.