ClinVar Miner

List of variants in gene DSG2 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP
NC_000018.10:g.31498074G>A
NC_000018.10:g.31498108G>A
NM_001943.4(DSG2):c.-135A>T rs886053709
NM_001943.4(DSG2):c.-153dupC rs886053708
NM_001943.4(DSG2):c.-156G>A rs886053707
NM_001943.4(DSG2):c.-79C>G rs552915392
NM_001943.4(DSG2):c.-94G>C rs149048465
NM_001943.5(DSG2):c.*1012C>T rs886053733
NM_001943.5(DSG2):c.*1036C>G rs191443311
NM_001943.5(DSG2):c.*1071T>C rs183684674
NM_001943.5(DSG2):c.*1136G>A rs764985189
NM_001943.5(DSG2):c.*1263C>T rs192887371
NM_001943.5(DSG2):c.*1264G>C
NM_001943.5(DSG2):c.*131C>T rs146873880
NM_001943.5(DSG2):c.*1339G>A rs9304101
NM_001943.5(DSG2):c.*1385C>T
NM_001943.5(DSG2):c.*1399A>G rs117440439
NM_001943.5(DSG2):c.*1450G>A rs886053734
NM_001943.5(DSG2):c.*1471T>C rs574977992
NM_001943.5(DSG2):c.*1473G>T rs886053735
NM_001943.5(DSG2):c.*1530T>C rs15668
NM_001943.5(DSG2):c.*1596T>C
NM_001943.5(DSG2):c.*159G>A rs886053719
NM_001943.5(DSG2):c.*1652T>G rs886053736
NM_001943.5(DSG2):c.*1674G>A rs115630812
NM_001943.5(DSG2):c.*1714_*1715dup rs10645928
NM_001943.5(DSG2):c.*1786G>T rs886053737
NM_001943.5(DSG2):c.*1803A>G
NM_001943.5(DSG2):c.*1831T>C
NM_001943.5(DSG2):c.*1844A>G rs16962096
NM_001943.5(DSG2):c.*1866T>C rs1047433
NM_001943.5(DSG2):c.*1982A>C
NM_001943.5(DSG2):c.*2034C>T rs886053738
NM_001943.5(DSG2):c.*211A>G rs555912274
NM_001943.5(DSG2):c.*238T>G rs555035341
NM_001943.5(DSG2):c.*25del rs886053717
NM_001943.5(DSG2):c.*289A>G rs541237335
NM_001943.5(DSG2):c.*2C>T rs183494886
NM_001943.5(DSG2):c.*300G>A rs747504155
NM_001943.5(DSG2):c.*351C>A rs886053720
NM_001943.5(DSG2):c.*392A>G rs886053721
NM_001943.5(DSG2):c.*419G>T rs552933757
NM_001943.5(DSG2):c.*422C>T rs886053722
NM_001943.5(DSG2):c.*425T>C rs192049697
NM_001943.5(DSG2):c.*504A>G
NM_001943.5(DSG2):c.*565A>G rs11542765
NM_001943.5(DSG2):c.*599_*600del rs1491095224
NM_001943.5(DSG2):c.*601_*602TG[7] rs36022761
NM_001943.5(DSG2):c.*608G>A rs886053724
NM_001943.5(DSG2):c.*666G>T
NM_001943.5(DSG2):c.*677T>C rs113622947
NM_001943.5(DSG2):c.*696G>A rs773284085
NM_001943.5(DSG2):c.*705G>A rs57112788
NM_001943.5(DSG2):c.*737C>G rs767211637
NM_001943.5(DSG2):c.*739G>A
NM_001943.5(DSG2):c.*755G>A rs886053725
NM_001943.5(DSG2):c.*788G>C rs886053726
NM_001943.5(DSG2):c.*806C>T
NM_001943.5(DSG2):c.*847T>C
NM_001943.5(DSG2):c.*859G>A rs886053727
NM_001943.5(DSG2):c.*874C>T rs886053728
NM_001943.5(DSG2):c.*889G>A rs886053729
NM_001943.5(DSG2):c.*932_*933insA rs886053730
NM_001943.5(DSG2):c.*944del rs368604939
NM_001943.5(DSG2):c.*944dup rs368604939
NM_001943.5(DSG2):c.*960dup rs200149790
NM_001943.5(DSG2):c.*96C>G rs886053718
NM_001943.5(DSG2):c.*989C>T rs140755940
NM_001943.5(DSG2):c.*990G>A rs553112355
NM_001943.5(DSG2):c.-33G>A
NM_001943.5(DSG2):c.-44C>A rs886053710
NM_001943.5(DSG2):c.-4T>G rs886053711
NM_001943.5(DSG2):c.-55G>C rs551539015
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1031A>T (p.Glu344Val) rs886053713
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.5(DSG2):c.1331C>T (p.Thr444Ile)
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser) rs886053714
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077
NM_001943.5(DSG2):c.1583C>G (p.Pro528Arg)
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.5(DSG2):c.1648G>A (p.Glu550Lys)
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu) rs748684045
NM_001943.5(DSG2):c.1652-12C>T rs140850369
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.1758T>C (p.Leu586=) rs773812422
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901
NM_001943.5(DSG2):c.182G>T (p.Gly61Val)
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.5(DSG2):c.1863C>G (p.Ala621=) rs768150787
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180
NM_001943.5(DSG2):c.1879+8T>C
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
NM_001943.5(DSG2):c.2019G>C (p.Leu673=) rs886053715
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703
NM_001943.5(DSG2):c.217-5G>T rs80073511
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792
NM_001943.5(DSG2):c.2334+9G>A rs776516070
NM_001943.5(DSG2):c.2335-9T>C rs757355636
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) rs775091459
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475
NM_001943.5(DSG2):c.2643C>A (p.Thr881=)
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met) rs368584610
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr) rs764925318
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val) rs774113529
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln) rs532305326
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.447T>C (p.Val149=)
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546
NM_001943.5(DSG2):c.45+10G>T rs776975980
NM_001943.5(DSG2):c.45+9C>G rs376573409
NM_001943.5(DSG2):c.524-9T>A rs11876289
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile) rs751490881
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.5(DSG2):c.828+10A>C rs886053712
NM_001943.5(DSG2):c.828+13C>A
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.5(DSG2):c.968T>G (p.Ile323Arg)
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919

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