ClinVar Miner

List of variants in gene TRPS1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg) rs369004633 0.00041
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser) rs61745721 0.00034
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser) rs200964070 0.00026
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala) rs373510969 0.00012
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met) rs376875568 0.00008
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met) rs61758125 0.00006
NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser) rs369619683 0.00005
NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser) rs780885595 0.00003
NM_014112.5(TRPS1):c.217C>T (p.His73Tyr) rs572735161 0.00002
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr) rs774019004 0.00001
NM_014112.5(TRPS1):c.1088T>G (p.Leu363Ter) rs1554596397
NM_014112.5(TRPS1):c.1151T>C (p.Val384Ala)
NM_014112.5(TRPS1):c.1219T>G (p.Leu407Val)
NM_014112.5(TRPS1):c.1246G>C (p.Val416Leu)
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)
NM_014112.5(TRPS1):c.1571C>T (p.Ser524Phe)
NM_014112.5(TRPS1):c.1690C>G (p.Gln564Glu)
NM_014112.5(TRPS1):c.1720A>G (p.Ile574Val)
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1871G>A (p.Arg624Gln)
NM_014112.5(TRPS1):c.1907C>T (p.Thr636Ile)
NM_014112.5(TRPS1):c.2222A>G (p.Glu741Gly)
NM_014112.5(TRPS1):c.2236A>C (p.Ile746Leu)
NM_014112.5(TRPS1):c.238C>T (p.Pro80Ser)
NM_014112.5(TRPS1):c.2513A>G (p.Lys838Arg)
NM_014112.5(TRPS1):c.2627C>T (p.Ser876Phe) rs751298577
NM_014112.5(TRPS1):c.2657C>T (p.Ser886Leu)
NM_014112.5(TRPS1):c.281G>A (p.Ser94Asn)
NM_014112.5(TRPS1):c.2827C>A (p.Pro943Thr)
NM_014112.5(TRPS1):c.2954A>C (p.Glu985Ala)
NM_014112.5(TRPS1):c.3028C>G (p.Pro1010Ala)
NM_014112.5(TRPS1):c.3203dup (p.Ser1069fs) rs1812870694
NM_014112.5(TRPS1):c.3268C>T (p.His1090Tyr)
NM_014112.5(TRPS1):c.3365A>T (p.Asp1122Val)
NM_014112.5(TRPS1):c.3401T>C (p.Val1134Ala)
NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)
NM_014112.5(TRPS1):c.3527dup (p.Leu1177fs) rs1812861396
NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly) rs2129746312
NM_014112.5(TRPS1):c.365A>G (p.Asn122Ser)
NM_014112.5(TRPS1):c.3667C>G (p.Gln1223Glu)
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)
NM_014112.5(TRPS1):c.3848A>G (p.Asn1283Ser)
NM_014112.5(TRPS1):c.391G>T (p.Ala131Ser)
NM_014112.5(TRPS1):c.620G>T (p.Gly207Val)
NM_014112.5(TRPS1):c.659A>G (p.Asn220Ser)
NM_014112.5(TRPS1):c.713A>G (p.Asn238Ser)
NM_014112.5(TRPS1):c.96G>T (p.Gln32His)

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.