ClinVar Miner

List of variants in gene DSC2 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NC_000018.10:g.31091827del
NM_004949.4(DSC2):c.942+16A>T rs111347888
NM_024422.6(DSC2):c.*1096T>C rs74749519
NM_024422.6(DSC2):c.*133G>A rs139923163
NM_024422.6(DSC2):c.*137A>G rs78190086
NM_024422.6(DSC2):c.*1604A>G rs188072930
NM_024422.6(DSC2):c.*46A>T rs77431927
NM_024422.6(DSC2):c.*579T>C rs59914360
NM_024422.6(DSC2):c.*764del rs796836744
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411
NM_024422.6(DSC2):c.1029T>C (p.Ile343=) rs1555639124
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1077+11G>A rs727504868
NM_024422.6(DSC2):c.1077+11G>T rs727504868
NM_024422.6(DSC2):c.1077+33A>G
NM_024422.6(DSC2):c.1077+9A>T rs369381870
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.6(DSC2):c.1131T>G (p.Thr377=) rs772815380
NM_024422.6(DSC2):c.120C>A (p.Pro40=) rs773259822
NM_024422.6(DSC2):c.1264-4G>A rs377439942
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1323T>C (p.Ala441=) rs745795354
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) rs1555638690
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) rs750965801
NM_024422.6(DSC2):c.1520+8C>G rs372979057
NM_024422.6(DSC2):c.1521-7C>T rs374810953
NM_024422.6(DSC2):c.153A>G (p.Arg51=) rs781424888
NM_024422.6(DSC2):c.155-222C>T
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1591A>C (p.Arg531=) rs727502981
NM_024422.6(DSC2):c.1638T>C (p.Asn546=) rs145987522
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.1881A>G (p.Ala627=) rs752023626
NM_024422.6(DSC2):c.1888+7A>G rs1555637977
NM_024422.6(DSC2):c.1888+92A>G
NM_024422.6(DSC2):c.1889-36T>C
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.6(DSC2):c.1935A>G (p.Ser645=) rs878855084
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=) rs397517395
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile) rs781419827
NM_024422.6(DSC2):c.2103G>A (p.Leu701=) rs141726394
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489
NM_024422.6(DSC2):c.2125+190G>A
NM_024422.6(DSC2):c.2125+9T>G rs1555637547
NM_024422.6(DSC2):c.2126-239G>T
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429
NM_024422.6(DSC2):c.2151G>C (p.Gly717=) rs752691135
NM_024422.6(DSC2):c.2157T>C (p.Ser719=) rs985629599
NM_024422.6(DSC2):c.2163G>A (p.Thr721=) rs773220437
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2202G>A (p.Gln734=) rs775922060
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) rs142807209
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) rs886039103
NM_024422.6(DSC2):c.2250+3A>G rs1555637433
NM_024422.6(DSC2):c.2251-13G>A rs1057523492
NM_024422.6(DSC2):c.2251-20G>A rs779900062
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.6(DSC2):c.2352C>T (p.Ile784=) rs562571453
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155
NM_024422.6(DSC2):c.2392C>A (p.Arg798=) rs201548399
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2416C>T (p.Leu806=) rs758409608
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378
NM_024422.6(DSC2):c.2442G>A (p.Thr814=) rs750971227
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.6(DSC2):c.2508+305G>T
NM_024422.6(DSC2):c.2508+309C>T
NM_024422.6(DSC2):c.2509-118A>G rs137934790
NM_024422.6(DSC2):c.2509-16T>C rs978907622
NM_024422.6(DSC2):c.2509-245A>G
NM_024422.6(DSC2):c.2509-95C>T rs781646028
NM_024422.6(DSC2):c.2509-9C>T rs773056962
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.285C>T (p.Thr95=) rs773333125
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.357C>T (p.Val119=) rs1452043194
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_024422.6(DSC2):c.429G>C (p.Ser143=) rs542638302
NM_024422.6(DSC2):c.474+45C>G
NM_024422.6(DSC2):c.474+4C>A rs1567982295
NM_024422.6(DSC2):c.489G>A (p.Thr163=) rs752952811
NM_024422.6(DSC2):c.525T>C (p.Gly175=) rs541223771
NM_024422.6(DSC2):c.534T>G (p.Val178=) rs1567981655
NM_024422.6(DSC2):c.585G>A (p.Leu195=) rs912124448
NM_024422.6(DSC2):c.627T>C (p.Phe209=) rs754168300
NM_024422.6(DSC2):c.630+8C>T rs201147144
NM_024422.6(DSC2):c.630+8_630+10delinsTT rs397517401
NM_024422.6(DSC2):c.631-13dup rs551337657
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.70-18T>C rs757641297
NM_024422.6(DSC2):c.70-20G>A rs374486794
NM_024422.6(DSC2):c.702G>A (p.Glu234=) rs397517402
NM_024422.6(DSC2):c.72C>A (p.Ile24=) rs757826575
NM_024422.6(DSC2):c.741T>C (p.Thr247=) rs1555639671
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.750T>C (p.Phe250=) rs781667894
NM_024422.6(DSC2):c.775+8C>A
NM_024422.6(DSC2):c.776-13T>G rs370595433
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.927T>C (p.Ser309=) rs1434821927
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.951C>T (p.Asp317=) rs749810775

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