ClinVar Miner

List of variants in gene DSG2 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 196
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233 0.50779
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.48308
NM_001943.5(DSG2):c.1014+27G>A rs62095194 0.22724
NM_001943.5(DSG2):c.828+16C>A rs3737378 0.22345
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.22185
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_001943.5(DSG2):c.523+24T>A rs55657337 0.15444
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02255
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00649
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00288
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00284
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240 0.00196
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_001943.5(DSG2):c.216+16G>A rs200239610 0.00073
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407 0.00038
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_001943.5(DSG2):c.829-19_829-18del rs111241096 0.00034
NM_001943.5(DSG2):c.1280+18G>C rs141175168 0.00030
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00018
NM_001943.5(DSG2):c.1280+17C>T rs199885701 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_001943.5(DSG2):c.783T>A (p.Arg261=) rs369869320 0.00016
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_001943.5(DSG2):c.81+17A>G rs547399759 0.00012
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) rs367548984 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954 0.00011
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_001943.5(DSG2):c.523+20T>C rs775127367 0.00010
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) rs544981484 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_001943.5(DSG2):c.600C>A (p.Ile200=) rs535646295 0.00007
NM_001943.5(DSG2):c.1089G>A (p.Ser363=) rs372598337 0.00006
NM_001943.5(DSG2):c.1491C>T (p.Pro497=) rs587780928 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_001943.5(DSG2):c.1652-1G>A rs1382430464 0.00006
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314 0.00006
NM_001943.5(DSG2):c.2001+20A>G rs746383404 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.2085G>A (p.Thr695=) rs554396523 0.00006
NM_001943.5(DSG2):c.2241C>T (p.Thr747=) rs767628208 0.00006
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe) rs199926617 0.00006
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001943.5(DSG2):c.1110T>C (p.Pro370=) rs772805008 0.00004
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00004
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370 0.00004
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr) rs368257724 0.00004
NM_001943.5(DSG2):c.1878A>G (p.Leu626=) rs771576658 0.00004
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244 0.00004
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396 0.00004
NM_001943.5(DSG2):c.273A>G (p.Gly91=) rs376944801 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) rs2848673 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) rs777642924 0.00003
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) rs374807974 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.55A>G (p.Asn19Asp) rs185266383 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00003
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001943.5(DSG2):c.2100C>T (p.Ser700=) rs397516704 0.00002
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr) rs397516705 0.00002
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=) rs773954315 0.00002
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=) rs757473850 0.00002
NM_001943.5(DSG2):c.57C>T (p.Asn19=) rs587780925 0.00002
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=) rs202095254 0.00001
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala) rs748619993 0.00001
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr) rs549421694 0.00001
NM_001943.5(DSG2):c.1791C>T (p.Ser597=) rs768167385 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.2583A>G (p.Thr861=) rs774775322 0.00001
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) rs371498622 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) rs775670183 0.00001
NM_001943.5(DSG2):c.2751G>A (p.Ala917=) rs763063602 0.00001
NM_001943.5(DSG2):c.3027A>G (p.Gln1009=) rs1383834116 0.00001
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.46-11T>C rs757891590 0.00001
NM_001943.5(DSG2):c.46-3C>T rs777302616 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.782G>A (p.Arg261His) rs727502984 0.00001
NM_001943.5(DSG2):c.81+10C>T rs764150806 0.00001
NM_001943.5(DSG2):c.82-10A>G rs1437170752 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919 0.00001
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1100A>G (p.Lys367Arg) rs1057518504
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp) rs727504748
NM_001943.5(DSG2):c.1194C>G (p.Ser398Arg) rs770669833
NM_001943.5(DSG2):c.1266A>G (p.Leu422=) rs770359142
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1317T>C (p.Ser439=) rs727505064
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) rs727504533
NM_001943.5(DSG2):c.1410G>A (p.Val470=) rs1036402724
NM_001943.5(DSG2):c.1463A>G (p.Asn488Ser) rs794728078
NM_001943.5(DSG2):c.1483A>T (p.Asn495Tyr)
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu) rs397516702
NM_001943.5(DSG2):c.1573A>G (p.Asn525Asp) rs794728079
NM_001943.5(DSG2):c.1724A>G (p.Asn575Ser) rs727502988
NM_001943.5(DSG2):c.1808A>G (p.Gln603Arg) rs794728080
NM_001943.5(DSG2):c.202A>G (p.Asn68Asp) rs1057518583
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) rs794728081
NM_001943.5(DSG2):c.2127T>C (p.His709=) rs876657457
NM_001943.5(DSG2):c.216+14_216+15del rs876657458
NM_001943.5(DSG2):c.216+20A>C rs762768999
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu) rs772240008
NM_001943.5(DSG2):c.2235G>A (p.Thr745=) rs759572082
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr) rs876657792
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2435G>A (p.Gly812Asp)
NM_001943.5(DSG2):c.2524G>C (p.Gly842Arg)
NM_001943.5(DSG2):c.2568A>C (p.Lys856Asn) rs200691513
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) rs547741894
NM_001943.5(DSG2):c.2796T>C (p.Asn932=) rs2073307337
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.291A>C (p.Pro97=) rs727502983
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys) rs1057520867
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr) rs2073123855
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=) rs727504601
NM_001943.5(DSG2):c.3251C>T (p.Pro1084Leu)
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) rs778884735
NM_001943.5(DSG2):c.474G>A (p.Val158=) rs397516708
NM_001943.5(DSG2):c.523+23_523+24del rs77324780
NM_001943.5(DSG2):c.523+24del rs77324780
NM_001943.5(DSG2):c.523+24dup rs77324780
NM_001943.5(DSG2):c.523+9C>T rs587780926
NM_001943.5(DSG2):c.618T>A (p.Ala206=) rs397516710
NM_001943.5(DSG2):c.828+13C>T rs180926981
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.858C>T (p.Val286=) rs1555671463
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.885G>A (p.Val295=) rs534674777
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205

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.