ClinVar Miner

List of variants in gene DSC2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 277
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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.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.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.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.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.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
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.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.2298G>C (p.Gln766His) rs139558481 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 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.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 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.136G>A (p.Glu46Lys) rs180908546 0.00008
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
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.2151G>C (p.Gly717=) rs752691135 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521 0.00006
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980 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.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024422.6(DSC2):c.2251-20G>A rs779900062 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2509-16T>C rs978907622 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086 0.00003
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) rs1447651355 0.00003
NM_024422.6(DSC2):c.1264-4G>A rs377439942 0.00003
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp) rs1342808624 0.00003
NM_024422.6(DSC2):c.2157T>C (p.Ser719=) rs985629599 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.2509-118A>G rs137934790 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) rs202058544 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_024422.6(DSC2):c.776-13T>G rs370595433 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.1401G>A (p.Glu467=) rs977781359 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395 0.00002
NM_024422.6(DSC2):c.2126-20A>T rs779297158 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.2287G>A (p.Ala763Thr) rs777004957 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.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr) rs1214725211 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_024422.6(DSC2):c.120C>A (p.Pro40=) rs773259822 0.00001
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) rs776398212 0.00001
NM_024422.6(DSC2):c.1576T>G (p.Ser526Ala) rs794728070 0.00001
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) rs887847751 0.00001
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met) rs750329563 0.00001
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys) rs776917359 0.00001
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met) rs772775522 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.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155 0.00001
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) rs794728071 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.2509-116A>G rs746058773 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) rs1231247825 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.473del (p.Gln158fs) rs1064795963 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) rs1987447409 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.880C>A (p.Leu294Ile) rs761796202 0.00001
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497 0.00001
NM_004949.3(DSC2):c.942+13dup rs2143944223
NM_004949.5(DSC2):c.1234dup (p.Thr412fs) rs397517390
NM_004949.5(DSC2):c.630+8_630+10delinsTT rs397517401
NM_024422.6(DSC2):c.*137A>G rs78190086
NM_024422.6(DSC2):c.101dup (p.Asn34fs) rs1555640396
NM_024422.6(DSC2):c.1077+11G>A rs727504868
NM_024422.6(DSC2):c.1077+9A>T rs369381870
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter) rs1555638995
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1263+196del rs573964762
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys) rs794728076
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.1352C>T (p.Ser451Leu) rs794728068
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) rs750965801
NM_024422.6(DSC2):c.1521-13T>A rs794728069
NM_024422.6(DSC2):c.155-222C>T rs115000647
NM_024422.6(DSC2):c.1635_1636dup (p.Asn546fs) rs1555638622
NM_024422.6(DSC2):c.164A>T (p.Lys55Ile) rs2144847063
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) rs1021990449
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1664-1G>C rs776877367
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met) rs2144800239
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe) rs755041461
NM_024422.6(DSC2):c.1823_1828delinsATGACC (p.Phe608_Phe610delinsTyrAspLeu) rs2144799644
NM_024422.6(DSC2):c.1871G>T (p.Arg624Ile)
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.1918G>A (p.Asp640Asn) rs267605146
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=) rs397517395
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr) rs1567973075
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.2250+3A>G rs1555637433
NM_024422.6(DSC2):c.2251-13G>A rs1057523492
NM_024422.6(DSC2):c.2251-74_2279del
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser) rs727502979
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.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
NM_024422.6(DSC2):c.2487del (p.Phe829fs) rs794728073
NM_024422.6(DSC2):c.2508+207A>T rs112843985
NM_024422.6(DSC2):c.2509-140_2509-139dup rs749124606
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.2549C>G (p.Ala850Gly) rs2144781303
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.2705G>T (p.Ter902Leu) rs1986683368
NM_024422.6(DSC2):c.354+1G>T rs764016208
NM_024422.6(DSC2):c.354+265dup rs138357583
NM_024422.6(DSC2):c.354+274del rs138357583
NM_024422.6(DSC2):c.355-272del rs3216154
NM_024422.6(DSC2):c.356T>A (p.Val119Asp) rs794728074
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_024422.6(DSC2):c.431T>C (p.Met144Thr) rs794728065
NM_024422.6(DSC2):c.437A>G (p.Glu146Gly) rs575632427
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe) rs2144843013
NM_024422.6(DSC2):c.475-111_475-108del rs141142926
NM_024422.6(DSC2):c.536A>G (p.Asp179Gly) rs760185784
NM_024422.6(DSC2):c.572A>G (p.Asp191Gly) rs2144838855
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.630+240_630+251del rs1173445073
NM_024422.6(DSC2):c.630+256_630+257dup rs768405529
NM_024422.6(DSC2):c.630+256_630+258dup rs768405529
NM_024422.6(DSC2):c.630+256dup rs768405529
NM_024422.6(DSC2):c.631-135C>T rs113526672
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser) rs762722282
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.715A>G (p.Asn239Asp) rs774551962
NM_024422.6(DSC2):c.715_728dup (p.Phe243fs) rs759922677
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly) rs1057524741
NM_024422.6(DSC2):c.741T>C (p.Thr247=) rs1555639671
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.800C>G (p.Ala267Gly) rs2144830884
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys) rs397517404
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.880del (p.Leu294fs) rs1451144520
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
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+13_942+15dup rs5823783
NM_024422.6(DSC2):c.942+27T>C
NM_024422.6(DSC2):c.942+3A>G
NM_024422.6(DSC2):c.943-293_943-276del rs146968444
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024422.6(DSC2):c.994T>C (p.Tyr332His) rs794728067

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