ClinVar Miner

List of variants reported as likely benign for renal hypodysplasia/aplasia 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.5(RET):c.-196C>A rs10900297 0.41632
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
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_006953.4(UPK3A):c.588G>A (p.Thr196=) rs115882180 0.00735
NM_020975.6(RET):c.*330A>G rs141460872 0.00640
NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala) rs145106685 0.00588
NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter) rs138918236 0.00587
NM_020975.6(RET):c.*1870C>T rs146771196 0.00539
NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter) rs147609981 0.00387
NM_006953.4(UPK3A):c.571+1G>A rs145723454 0.00371
NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr) rs150598171 0.00369
NM_020975.6(RET):c.*1742G>A rs143369221 0.00349
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_020975.6(RET):c.*1583G>A rs192065891 0.00300
NM_020975.6(RET):c.*1599G>A rs145954635 0.00265
NM_020975.6(RET):c.*1558A>C rs142572876 0.00260
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_006953.4(UPK3A):c.90C>T (p.Phe30=) rs199656309 0.00054
NM_020975.6(RET):c.*576G>A rs185408658 0.00044
NM_006953.4(UPK3A):c.628G>A (p.Val210Ile) rs147247708 0.00040
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_006953.4(UPK3A):c.*73C>T rs534707412 0.00026
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.1353G>T (p.Thr451=) rs201568301 0.00010
NM_020975.6(RET):c.2418C>T (p.Tyr806=) rs553418132 0.00005
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385 0.00004
NM_006953.4(UPK3A):c.417C>T (p.Asn139=) rs531623690 0.00003
NM_006953.4(UPK3A):c.*26C>T rs570266965
NM_006953.4(UPK3A):c.704+8C>G rs112177270
NM_020975.6(RET):c.*492G>C rs568766449
NM_020975.6(RET):c.*499dup rs201945709
NM_020975.6(RET):c.-160G>T rs567112195
NM_020975.6(RET):c.1523-7C>T rs567967877

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.