ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 2C; Febrile seizures, familial, 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900 0.00002
NM_032119.4(ADGRV1):c.1055C>T (p.Pro352Leu) rs765574676 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_032119.4(ADGRV1):c.17455-2A>T rs1279862720 0.00001
NM_032119.4(ADGRV1):c.9623+1G>A rs749982150 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_032119.4(ADGRV1):c.10172G>A (p.Trp3391Ter)
NM_032119.4(ADGRV1):c.10213C>T (p.Arg3405Ter) rs763670293
NM_032119.4(ADGRV1):c.10476_10479del (p.Phe3493fs) rs1260874342
NM_032119.4(ADGRV1):c.11547_11550del (p.Ile3849fs) rs1471607090
NM_032119.4(ADGRV1):c.11757+2T>C rs1755861358
NM_032119.4(ADGRV1):c.12350_12353dup (p.Phe4118fs)
NM_032119.4(ADGRV1):c.1239-1G>T rs373015808
NM_032119.4(ADGRV1):c.12542del (p.Pro4181fs) rs2531857217
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs) rs1759155995
NM_032119.4(ADGRV1):c.14455_14456del (p.Arg4819fs) rs1417393007
NM_032119.4(ADGRV1):c.14854dup (p.His4952fs) rs1762027044
NM_032119.4(ADGRV1):c.17187C>A (p.Cys5729Ter)
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.17576G>A (p.Trp5859Ter)
NM_032119.4(ADGRV1):c.17756-1G>A
NM_032119.4(ADGRV1):c.2017-1G>A
NM_032119.4(ADGRV1):c.2898G>T (p.Glu966Asp)
NM_032119.4(ADGRV1):c.3364dup (p.Ser1122fs) rs779424764
NM_032119.4(ADGRV1):c.3908dup (p.Leu1303fs) rs749681584
NM_032119.4(ADGRV1):c.4371dup (p.Thr1458fs) rs759668154
NM_032119.4(ADGRV1):c.4571C>G (p.Ser1524Ter) rs1043304361
NM_032119.4(ADGRV1):c.4753-1G>T
NM_032119.4(ADGRV1):c.4837del (p.Ser1613fs)
NM_032119.4(ADGRV1):c.5314-2A>G
NM_032119.4(ADGRV1):c.559-1G>A
NM_032119.4(ADGRV1):c.582del (p.Asp195fs) rs2531785573
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs) rs778288846
NM_032119.4(ADGRV1):c.6491-1G>A rs1010784407
NM_032119.4(ADGRV1):c.6642_6648dup (p.Ala2217fs)
NM_032119.4(ADGRV1):c.9596dup (p.Phe3200fs)

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.