ClinVar Miner

List of variants in gene DSC2 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.1663+89A>G rs1658128 0.99751
NM_024422.6(DSC2):c.1264-182T>C rs1790701 0.78108
NM_024422.6(DSC2):c.70-307A>T rs1789063 0.74053
NM_024422.6(DSC2):c.355-102A>C rs1790683 0.67885
NM_024422.6(DSC2):c.70-288T>C rs1790689 0.41010
NM_024422.6(DSC2):c.475-282G>A rs1612474 0.39178
NM_024422.6(DSC2):c.70-154G>A rs28379678 0.32370
NM_024422.6(DSC2):c.1264-293A>G rs1789057 0.26239
NM_024422.6(DSC2):c.631-188C>T rs2276373 0.25477
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_024422.6(DSC2):c.2251-98T>C rs1893961 0.18479
NM_024422.6(DSC2):c.776-121A>G rs17799745 0.12043
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.*579T>C rs59914360 0.09730
NM_024422.6(DSC2):c.2251-49T>C rs1893962 0.05255
NM_024422.6(DSC2):c.2509-22G>A rs1790682 0.03795
NM_024422.6(DSC2):c.1889-291T>C rs78561044 0.02825
NM_024422.6(DSC2):c.*1096T>C rs74749519 0.01657
NM_024422.6(DSC2):c.2251-27C>A rs151289743 0.01365
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
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.2616C>T (p.Cys872=) rs61731920 0.00194
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.1789G>T (p.Val597Phe) rs143040393 0.00068
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
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.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
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.631-13dup rs551337657 0.00026
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.2471C>T (p.Ser824Leu) rs143413607 0.00016
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.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.2151G>C (p.Gly717=) rs752691135 0.00006
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1264-4G>A rs377439942 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.2126-20A>T rs779297158 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.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2125+18T>G rs750103770 0.00001
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024422.6(DSC2):c.627T>C (p.Phe209=) rs754168300 0.00001
NM_004949.3(DSC2):c.942+13dup rs2143944223
NM_024422.6(DSC2):c.*133G>A rs139923163
NM_024422.6(DSC2):c.1263+196del rs573964762
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1664-17dup
NM_024422.6(DSC2):c.1888+216CA[16] rs71175757
NM_024422.6(DSC2):c.1888+216CA[17] rs71175757
NM_024422.6(DSC2):c.1888+216CA[18] rs71175757
NM_024422.6(DSC2):c.1888+216CA[19] rs71175757
NM_024422.6(DSC2):c.1888+216CA[21] rs71175757
NM_024422.6(DSC2):c.1888+216CA[22] rs71175757
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2684_2685insG (p.Glu896fs) rs2144780627
NM_024422.6(DSC2):c.2685dup (p.Glu896fs) rs2144780609
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.355-272del rs3216154
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.475-111_475-108del rs141142926
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+13del rs763577727
NM_024422.6(DSC2):c.630+256_630+257dup rs768405529
NM_024422.6(DSC2):c.630+256dup rs768405529
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.70-18dup rs572309510
NM_024422.6(DSC2):c.70-20G>A rs374486794
NM_024422.6(DSC2):c.70-8dup rs1048960125
NM_024422.6(DSC2):c.942+10_942+11insATT rs2144830086
NM_024422.6(DSC2):c.942+11_942+12insT rs1555639465
NM_024422.6(DSC2):c.942+11_942+12insTTA rs1555639465
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.942+23C>A
NM_024422.6(DSC2):c.943-293_943-276del rs146968444
NM_024422.6(DSC2):c.943-9dup rs1987283946

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.