ClinVar Miner

List of variants in gene RET studied for Aganglionic megacolon

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658 0.00002
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065 0.00002
NM_020975.6(RET):c.867+4del rs398124368 0.00002
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040 0.00001
NM_020975.6(RET):c.111G>A (p.Trp37Ter) rs1564489315
NM_020975.6(RET):c.1753T>C (p.Cys585Arg) rs1588872865
NM_020975.6(RET):c.1825T>C (p.Cys609Arg) rs77558292
NM_020975.6(RET):c.1831T>C (p.Cys611Arg) rs377767391
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.2865dup (p.Pro956fs) rs1564500612
NM_020975.6(RET):c.3143del (p.Leu1048fs) rs1564501934
NM_020975.6(RET):c.440T>C (p.Phe147Ser) rs1564490097
NM_020975.6(RET):c.604G>C (p.Val202Leu) rs751572082
NM_020975.6(RET):c.860G>A (p.Arg287Gln) rs1564491460
NM_020975.6(RET):c.860G>T (p.Arg287Leu) rs1564491460
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689

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.