ClinVar Miner

List of variants in gene DSC2 studied for not provided

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Gene type:
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Total variants: 143
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HGVS dbSNP
NC_000018.10:g.31089702_31089705del rs141142926
NC_000018.10:g.31091419del rs3216154
NC_000018.10:g.31091827del rs138357583
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157
NM_024422.6(DSC2):c.101dup (p.Asn34fs) rs1555640396
NM_024422.6(DSC2):c.1041T>C (p.Asp347=) rs758394251
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385
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+33A>G rs75019786
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1131T>G (p.Thr377=) rs772815380
NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter) rs1555638995
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1264-182T>C rs1790701
NM_024422.6(DSC2):c.1264-293A>G rs1789057
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys) rs794728076
NM_024422.6(DSC2):c.1290G>C (p.Gln430His) rs191461349
NM_024422.6(DSC2):c.1347A>G (p.Pro449=) rs1157738158
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.135C>T (p.Ala45=) rs749323567
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) rs180908546
NM_024422.6(DSC2):c.1374T>A (p.Val458=) rs1295460147
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) rs776398212
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276
NM_024422.6(DSC2):c.1521-13T>A rs794728069
NM_024422.6(DSC2):c.155-222C>T rs115000647
NM_024422.6(DSC2):c.1576T>G (p.Ser526Ala) rs794728070
NM_024422.6(DSC2):c.159C>T (p.Asn53=) rs952701114
NM_024422.6(DSC2):c.1631_1632TA[4] (p.Asn546fs) rs1555638622
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1663+4A>G rs369849387
NM_024422.6(DSC2):c.1663+89A>G rs1658128
NM_024422.6(DSC2):c.1663G>A (p.Gly555Arg) rs1598580423
NM_024422.6(DSC2):c.1674A>T (p.Thr558=) rs761048564
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473
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.1816C>A (p.Pro606Thr) rs1598575823
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.1888+1G>C
NM_024422.6(DSC2):c.1888+7A>G rs1555637977
NM_024422.6(DSC2):c.1888+92A>G rs148570239
NM_024422.6(DSC2):c.1889-36T>C rs74374471
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.1990T>C (p.Leu664=) rs747173696
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2125+190G>A rs189743373
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2126-239G>T rs78849616
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
NM_024422.6(DSC2):c.2175A>C (p.Pro725=) rs921649870
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.2251-49T>C rs1893962
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) rs139558481
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) rs1282599604
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2392C>A (p.Arg798=) rs201548399
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) rs794728071
NM_024422.6(DSC2):c.2442G>C (p.Thr814=) rs750971227
NM_024422.6(DSC2):c.2487del (p.Phe829fs) rs794728073
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.6(DSC2):c.2502T>C (p.Leu834=) rs1598570166
NM_024422.6(DSC2):c.2508+305G>T rs79607795
NM_024422.6(DSC2):c.2508+309C>T rs75543658
NM_024422.6(DSC2):c.2509-111_2509-110del rs786205428
NM_024422.6(DSC2):c.2509-22G>A rs1790682
NM_024422.6(DSC2):c.2509-245A>G rs79887529
NM_024422.6(DSC2):c.2541C>T (p.His847=) rs1598569474
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823
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.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.6(DSC2):c.342G>A (p.Glu114=) rs1598591230
NM_024422.6(DSC2):c.355-102A>C rs1790683
NM_024422.6(DSC2):c.356T>A (p.Val119Asp) rs794728074
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629
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.394C>T (p.Arg132Cys) rs727504578
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585
NM_024422.6(DSC2):c.431T>C (p.Met144Thr) rs794728065
NM_024422.6(DSC2):c.473del (p.Gln158fs) rs1064795963
NM_024422.6(DSC2):c.474+45C>G rs149188953
NM_024422.6(DSC2):c.474+5C>T rs397517400
NM_024422.6(DSC2):c.475-282G>A rs1612474
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser)
NM_024422.6(DSC2):c.536A>G (p.Asp179Gly) rs760185784
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) rs202058544
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425
NM_024422.6(DSC2):c.631-188C>T rs2276373
NM_024422.6(DSC2):c.631-2A>G rs397514042
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024422.6(DSC2):c.70-154G>A rs28379678
NM_024422.6(DSC2):c.70-288T>C rs1790689
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly) rs1057524741
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359
NM_024422.6(DSC2):c.750T>C (p.Phe250=) rs781667894
NM_024422.6(DSC2):c.775+8C>A rs757814061
NM_024422.6(DSC2):c.776-121A>G rs17799745
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.936C>T (p.Asp312=) rs1431388251
NM_024422.6(DSC2):c.943-1G>A rs796756333
NM_024422.6(DSC2):c.943-293_943-276del rs146968444
NM_024422.6(DSC2):c.978A>G (p.Gln326=) rs1598583853
NM_024422.6(DSC2):c.994T>C (p.Tyr332His) rs794728067

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