List of variants in gene SLC34A3 reported as pathogenic for bone disorder

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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)	rs121918239	0.00149
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.232G>A (p.Gly78Arg)	rs756241784	0.00011
NM_001177316.2(SLC34A3):c.496G>A (p.Gly166Ser)	rs200536604	0.00009
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.846G>A (p.Pro282=)	rs121918236	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.1046_1047del (p.Val349fs)	rs750178720
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu)	rs121918234
NM_001177316.2(SLC34A3):c.1093+41_1094-15del	rs1554784508
NM_001177316.2(SLC34A3):c.1217G>T (p.Gly406Val)	rs139408872
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu)	rs121918235
NM_001177316.2(SLC34A3):c.1336-11_1336-1del	rs2131423939
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp)	rs121918238
NM_001177316.2(SLC34A3):c.1556dup (p.Pro520fs)	rs1554785333
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)	rs765816079
NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs)	rs1554785389
NM_001177316.2(SLC34A3):c.228del (p.Cys77fs)	rs794729659
NM_001177316.2(SLC34A3):c.575C>G (p.Ser192Trp)	rs199690076
NM_001177316.2(SLC34A3):c.908del (p.Pro303fs)	rs794729658
NM_001177316.2(SLC34A3):c.925+20_926-48del	rs1554784044

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.