ClinVar Miner

List of variants in gene DSC2 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2251-27C>A rs151289743 0.01365
NM_024422.6(DSC2):c.1263+211A>G rs55708837 0.01228
NM_024422.6(DSC2):c.2508+305G>T rs79607795 0.01043
NM_024422.6(DSC2):c.2126-239G>T rs78849616 0.01042
NM_024422.6(DSC2):c.474+302A>G rs114545446 0.00994
NM_024422.6(DSC2):c.2125+190G>A rs189743373 0.00927
NM_024422.6(DSC2):c.2508+309C>T rs75543658 0.00918
NM_024422.6(DSC2):c.2509-245A>G rs79887529 0.00916
NM_024422.6(DSC2):c.474+45C>G rs149188953 0.00906
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.1263+197A>T rs561028259 0.00738
NM_024422.6(DSC2):c.1077+233C>T rs138989161 0.00698
NM_024422.6(DSC2):c.1263+143A>T rs148936015 0.00695
NM_024422.6(DSC2):c.1889-36T>C rs74374471 0.00684
NM_024422.6(DSC2):c.1077+33A>G rs75019786 0.00680
NM_024422.6(DSC2):c.1888+92A>G rs148570239 0.00675
NM_024422.6(DSC2):c.1888+256_1888+262del rs1567974260 0.00658
NM_024422.6(DSC2):c.154+198C>T rs538111113 0.00605
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_024422.6(DSC2):c.1888+268_1888+274del rs1186454969 0.00560
NM_024422.6(DSC2):c.475-200C>T rs141255767 0.00557
NM_024422.6(DSC2):c.154+186T>C rs189168455 0.00514
NM_024422.6(DSC2):c.2125+189C>T rs554511193 0.00401
NM_024422.6(DSC2):c.1521-43G>A rs114579898 0.00385
NM_024422.6(DSC2):c.*46A>T rs77431927 0.00294
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_024422.6(DSC2):c.1889-29T>C rs200067684 0.00243
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_024422.6(DSC2):c.1888+51G>A rs144384989 0.00189
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.354+30A>G rs192669482 0.00088
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.1901G>A (p.Arg634His) rs200475862 0.00052
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.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.1520+8C>G rs372979057 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
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.2509-153_2509-152del rs372836109 0.00016
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
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.1638T>C (p.Asn546=) rs145987522 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
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.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629 0.00002
NM_024422.6(DSC2):c.750T>C (p.Phe250=) rs781667894 0.00002
NM_024422.6(DSC2):c.1548G>T (p.Gly516=) rs1465276759 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.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921 0.00001
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155 0.00001
NM_024422.6(DSC2):c.2403C>T (p.Gly801=) rs1261715763 0.00001
NM_024422.6(DSC2):c.627T>C (p.Phe209=) rs754168300 0.00001
NM_024422.6(DSC2):c.775+8C>A rs757814061 0.00001
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087 0.00001
NM_024422.6(DSC2):c.*137A>G rs78190086
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1431T>C (p.Thr477=)
NM_024422.6(DSC2):c.155-222C>T rs115000647
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) rs1021990449
NM_024422.6(DSC2):c.1674A>T (p.Thr558=) rs761048564
NM_024422.6(DSC2):c.1888+7A>G rs1555637977
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
NM_024422.6(DSC2):c.2251-13G>A rs1057523492
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2392C>A (p.Arg798=) rs201548399
NM_024422.6(DSC2):c.2508+207A>T rs112843985
NM_024422.6(DSC2):c.2509-140_2509-139dup rs749124606
NM_024422.6(DSC2):c.354+265dup rs138357583
NM_024422.6(DSC2):c.354+274del rs138357583
NM_024422.6(DSC2):c.475-13A>G rs751631188
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239
NM_024422.6(DSC2):c.630+240_630+251del rs1173445073
NM_024422.6(DSC2):c.630+256_630+258dup rs768405529
NM_024422.6(DSC2):c.631-135C>T rs113526672
NM_024422.6(DSC2):c.70-20G>A rs374486794
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.936C>T (p.Asp312=) rs1431388251
NM_024422.6(DSC2):c.942+27T>C

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