ClinVar Miner

List of variants reported as likely benign for Familial isolated arrhythmogenic right ventricular dysplasia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) rs568391206 0.00093
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846 0.00032
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567 0.00018
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772 0.00018
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) rs142807209 0.00014
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_024422.6(DSC2):c.951C>T (p.Asp317=) rs749810775 0.00009
NM_024422.6(DSC2):c.1638T>C (p.Asn546=) rs145987522 0.00006
NM_024422.6(DSC2):c.2103G>A (p.Leu701=) rs141726394 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521 0.00006
NM_024422.6(DSC2):c.1176T>C (p.Asn392=) rs769365346 0.00004
NM_024422.6(DSC2):c.1308T>C (p.Gly436=) rs762786487 0.00004
NM_024422.6(DSC2):c.160C>T (p.Leu54=) rs149347582 0.00004
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980 0.00004
NM_024422.6(DSC2):c.2202G>A (p.Gln734=) rs775922060 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00004
NM_024422.6(DSC2):c.776-12T>G rs397517403 0.00004
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_024422.6(DSC2):c.1881A>G (p.Ala627=) rs752023626 0.00003
NM_024422.6(DSC2):c.2595G>A (p.Val865=) rs765879750 0.00003
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359 0.00002
NM_024422.6(DSC2):c.1875G>C (p.Leu625=) rs142594406 0.00002
NM_024422.6(DSC2):c.2031C>T (p.Cys677=) rs754488475 0.00002
NM_024422.6(DSC2):c.2163G>A (p.Thr721=) rs773220437 0.00002
NM_024422.6(DSC2):c.2442G>A (p.Thr814=) rs750971227 0.00002
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=) rs370144781 0.00002
NM_024422.6(DSC2):c.27C>T (p.Ser9=) rs1406804472 0.00002
NM_024422.6(DSC2):c.324A>G (p.Lys108=) rs779651366 0.00002
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629 0.00002
NM_024422.6(DSC2):c.489G>A (p.Thr163=) rs752952811 0.00002
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1347A>G (p.Pro449=) rs1157738158 0.00001
NM_024422.6(DSC2):c.153A>G (p.Arg51=) rs781424888 0.00001
NM_024422.6(DSC2):c.1596C>T (p.Ser532=) rs1387501743 0.00001
NM_024422.6(DSC2):c.1803G>A (p.Glu601=) rs1288832288 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile) rs781419827 0.00001
NM_024422.6(DSC2):c.1990T>C (p.Leu664=) rs747173696 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2126-11T>C rs1283105269 0.00001
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) rs886039103 0.00001
NM_024422.6(DSC2):c.2256T>C (p.Ser752=) rs1369056367 0.00001
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921 0.00001
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) rs1282599604 0.00001
NM_024422.6(DSC2):c.2370A>G (p.Gly790=) rs761302953 0.00001
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155 0.00001
NM_024422.6(DSC2):c.237C>T (p.Val79=) rs1002646457 0.00001
NM_024422.6(DSC2):c.2382G>A (p.Ser794=) rs761322462 0.00001
NM_024422.6(DSC2):c.2391C>T (p.Cys797=) rs544366164 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024422.6(DSC2):c.2610T>C (p.Gly870=) rs761875347 0.00001
NM_024422.6(DSC2):c.2691A>G (p.Ala897=) rs555492553 0.00001
NM_024422.6(DSC2):c.285C>T (p.Thr95=) rs773333125 0.00001
NM_024422.6(DSC2):c.354+6C>T rs1987618823 0.00001
NM_024422.6(DSC2):c.396C>T (p.Arg132=) rs773053517 0.00001
NM_024422.6(DSC2):c.429G>A (p.Ser143=) rs542638302 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.474+6G>A rs764362617 0.00001
NM_024422.6(DSC2):c.549G>T (p.Arg183=) rs774025474 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024422.6(DSC2):c.60G>A (p.Leu20=) rs1201166808 0.00001
NM_024422.6(DSC2):c.627T>C (p.Phe209=) rs754168300 0.00001
NM_024422.6(DSC2):c.687A>G (p.Leu229=) rs371192108 0.00001
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087 0.00001
NM_024422.6(DSC2):c.975A>G (p.Val325=) rs1411764092 0.00001
NM_024422.6(DSC2):c.1005A>G (p.Leu335=)
NM_024422.6(DSC2):c.1125A>G (p.Arg375=)
NM_024422.6(DSC2):c.1134T>C (p.Val378=) rs921023156
NM_024422.6(DSC2):c.1197T>C (p.Asn399=)
NM_024422.6(DSC2):c.1251T>C (p.Leu417=)
NM_024422.6(DSC2):c.1284G>A (p.Lys428=) rs1987176408
NM_024422.6(DSC2):c.129A>G (p.Leu43=) rs1987671247
NM_024422.6(DSC2):c.1374T>A (p.Val458=) rs1295460147
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1452A>T (p.Ala484=)
NM_024422.6(DSC2):c.1521-14A>G
NM_024422.6(DSC2):c.1611A>G (p.Ala537=)
NM_024422.6(DSC2):c.1635T>C (p.Tyr545=)
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) rs1021990449
NM_024422.6(DSC2):c.1707C>T (p.Asp569=) rs201517977
NM_024422.6(DSC2):c.1713T>C (p.Asn571=)
NM_024422.6(DSC2):c.1812T>C (p.His604=)
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) rs1986952876
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.187C>T (p.Leu63=) rs1987628241
NM_024422.6(DSC2):c.1889-14A>G
NM_024422.6(DSC2):c.2013C>T (p.Cys671=) rs2144791194
NM_024422.6(DSC2):c.2049A>G (p.Pro683=)
NM_024422.6(DSC2):c.2121C>A (p.Leu707=)
NM_024422.6(DSC2):c.2126-15dup
NM_024422.6(DSC2):c.21C>T (p.Ser7=)
NM_024422.6(DSC2):c.2251-13G>A rs1057523492
NM_024422.6(DSC2):c.2253T>C (p.Tyr751=)
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2319A>G (p.Gly773=)
NM_024422.6(DSC2):c.2436A>G (p.Gly812=) rs754081349
NM_024422.6(DSC2):c.2438A>C (p.His813Pro) rs766881629
NM_024422.6(DSC2):c.24C>T (p.Gly8=) rs1987977472
NM_024422.6(DSC2):c.255T>C (p.Ile85=)
NM_024422.6(DSC2):c.2562C>G (p.Val854=)
NM_024422.6(DSC2):c.2568A>G (p.Thr856=) rs1986693059
NM_024422.6(DSC2):c.2631A>G (p.Glu877=)
NM_024422.6(DSC2):c.2637T>C (p.Asp879=)
NM_024422.6(DSC2):c.355-15G>A
NM_024422.6(DSC2):c.355-9T>C rs925436741
NM_024422.6(DSC2):c.357C>T (p.Val119=) rs1452043194
NM_024422.6(DSC2):c.475-13A>G rs751631188
NM_024422.6(DSC2):c.489G>T (p.Thr163=) rs752952811
NM_024422.6(DSC2):c.555A>G (p.Leu185=) rs768367488
NM_024422.6(DSC2):c.63C>T (p.Thr21=)
NM_024422.6(DSC2):c.70-18dup rs572309510
NM_024422.6(DSC2):c.726T>C (p.Ile242=)
NM_024422.6(DSC2):c.72C>A (p.Ile24=) rs757826575
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.753A>G (p.Thr251=) rs1987446637
NM_024422.6(DSC2):c.882A>G (p.Leu294=)
NM_024422.6(DSC2):c.906C>T (p.Gly302=) rs776857618
NM_024422.6(DSC2):c.927T>C (p.Ser309=) rs1434821927
NM_024422.6(DSC2):c.943-9dup rs1987283946
NM_024422.6(DSC2):c.975A>C (p.Val325=)
NM_024422.6(DSC2):c.990T>A (p.Gly330=)

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.