ClinVar Miner

List of variants in gene DSC2 reported as likely benign for Cardiovascular phenotype

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Gene type:
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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393 0.00068
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846 0.00032
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 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.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 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.2298G>C (p.Gln766His) rs139558481 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.2251-5T>G rs374262463 0.00009
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00009
NM_024422.6(DSC2):c.951C>T (p.Asp317=) rs749810775 0.00009
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) rs180908546 0.00008
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024422.6(DSC2):c.1291A>G (p.Met431Val) rs377287621 0.00006
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.1552G>C (p.Val518Leu) rs397517394 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.2175A>C (p.Pro725=) rs921649870 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2202G>A (p.Gln734=) rs775922060 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00004
NM_024422.6(DSC2):c.914C>T (p.Thr305Ile) rs1270395120 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.2059G>A (p.Gly687Ser) rs199616533 0.00003
NM_024422.6(DSC2):c.2157T>C (p.Ser719=) rs985629599 0.00003
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010 0.00003
NM_024422.6(DSC2):c.708A>G (p.Glu236=) rs377279601 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778 0.00002
NM_024422.6(DSC2):c.1438A>G (p.Met480Val) rs370616107 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1875G>C (p.Leu625=) rs142594406 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2163G>A (p.Thr721=) rs773220437 0.00002
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) rs1617629 0.00002
NM_024422.6(DSC2):c.2442G>A (p.Thr814=) rs750971227 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.105G>A (p.Val35=) rs776441487 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.120C>A (p.Pro40=) rs773259822 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.1981G>A (p.Val661Ile) rs781419827 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) rs886039103 0.00001
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921 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.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.285C>T (p.Thr95=) rs773333125 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.396C>T (p.Arg132=) rs773053517 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.540A>G (p.Gln180=) rs1291095173 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys) rs753004247 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.825G>A (p.Thr275=) rs767301887 0.00001
NM_024422.6(DSC2):c.975A>G (p.Val325=) rs1411764092 0.00001
NM_024422.6(DSC2):c.1041T>C (p.Asp347=) rs758394251
NM_024422.6(DSC2):c.1083G>A (p.Val361=)
NM_024422.6(DSC2):c.1206C>A (p.Gly402=) rs749170272
NM_024422.6(DSC2):c.1323T>G (p.Ala441=) rs745795354
NM_024422.6(DSC2):c.135C>G (p.Ala45=)
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu) rs774641579
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) rs1555638690
NM_024422.6(DSC2):c.150T>C (p.Gly50=)
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) rs1021990449
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1707C>T (p.Asp569=) rs201517977
NM_024422.6(DSC2):c.1830T>C (p.Phe610=) rs1986953386
NM_024422.6(DSC2):c.1845T>C (p.Ser615=)
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.1896A>C (p.Ala632=)
NM_024422.6(DSC2):c.1977T>C (p.Ser659=) rs770010850
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2039G>A (p.Arg680His) rs374002111
NM_024422.6(DSC2):c.219T>A (p.Ile73=)
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2343G>A (p.Gln781=)
NM_024422.6(DSC2):c.2394G>A (p.Arg798=) rs1986729754
NM_024422.6(DSC2):c.2412C>T (p.His804=)
NM_024422.6(DSC2):c.2436A>G (p.Gly812=) rs754081349
NM_024422.6(DSC2):c.246A>G (p.Thr82=)
NM_024422.6(DSC2):c.2541C>T (p.His847=) rs1598569474
NM_024422.6(DSC2):c.255T>A (p.Ile85=) rs970871881
NM_024422.6(DSC2):c.372T>C (p.His124=)
NM_024422.6(DSC2):c.433C>T (p.Leu145=)
NM_024422.6(DSC2):c.570A>G (p.Arg190=)
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.879C>A (p.Thr293=) rs1394417853
NM_024422.6(DSC2):c.906C>T (p.Gly302=) rs776857618
NM_024422.6(DSC2):c.978A>G (p.Gln326=) rs1598583853

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