ClinVar Miner

List of variants in gene DSC2 studied for not specified

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Gene type:
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Total variants: 133
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HGVS dbSNP
NM_004949.4(DSC2):c.942+16A>T rs111347888
NM_024422.6(DSC2):c.1001G>T (p.Gly334Val) rs397517388
NM_024422.6(DSC2):c.1028_1030del (p.Ile343del) rs1555639121
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086
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+2T>G rs397517389
NM_024422.6(DSC2):c.1077+9A>T rs369381870
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.6(DSC2):c.120C>A (p.Pro40=) rs773259822
NM_024422.6(DSC2):c.1234dup (p.Thr412fs) rs397517390
NM_024422.6(DSC2):c.1264-4G>A rs377439942
NM_024422.6(DSC2):c.1264-5C>T rs183614856
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846
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.135C>T (p.Ala45=) rs749323567
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) rs750965801
NM_024422.6(DSC2):c.1520+8C>G rs372979057
NM_024422.6(DSC2):c.1521-5A>G rs397517392
NM_024422.6(DSC2):c.1521-7C>T rs374810953
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394
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.1719C>T (p.Asn573=) rs140167653
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.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.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=) rs397517395
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817
NM_024422.6(DSC2):c.2058C>T (p.Gly686=) rs1177700048
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg) rs199616533
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn) rs397517397
NM_024422.6(DSC2):c.2125+1del rs794728072
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.2174C>T (p.Pro725Leu) rs876657788
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.2245A>C (p.Lys749Gln) rs765067237
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.2251-49T>C rs1893962
NM_024422.6(DSC2):c.2251-5T>G rs374262463
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521
NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser) rs727502979
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr) rs397517398
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.2381C>T (p.Ser794Leu) rs1617629
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.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
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.2446G>A (p.Val816Met) rs377700521
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.2509-118A>G rs137934790
NM_024422.6(DSC2):c.2509-16T>C rs978907622
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu) rs727504906
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.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.408A>G (p.Arg136=) rs561653481
NM_024422.6(DSC2):c.474+5C>A rs397517400
NM_024422.6(DSC2):c.489G>A (p.Thr163=) rs752952811
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_024422.6(DSC2):c.630+8_630+10delinsTT rs397517401
NM_024422.6(DSC2):c.631-2A>G rs397514042
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.721C>T (p.Pro241Ser) rs727505169
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.776-12T>G rs397517403
NM_024422.6(DSC2):c.776-13T>G rs370595433
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys) rs397517404
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318
NM_024422.6(DSC2):c.844T>C (p.Tyr282His) rs397517405
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119
NM_024422.6(DSC2):c.893A>T (p.His298Leu) rs397517407
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) rs397517409

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