ClinVar Miner

List of variants in gene DSG2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile) rs373512167 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) rs727505205 0.00006
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser) rs760402926 0.00005
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg) rs940804506 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.2405A>G (p.Glu802Gly) rs763315024 0.00004
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg) rs886039190 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.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035 0.00003
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys) rs550400909 0.00003
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser) rs773666300 0.00003
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp) rs375595872 0.00003
NM_001943.5(DSG2):c.216+3A>C rs774208829 0.00003
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) rs777642924 0.00003
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr) rs371918777 0.00003
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) rs774863785 0.00002
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn) rs747248279 0.00002
NM_001943.5(DSG2):c.2179G>A (p.Gly727Ser) rs755555966 0.00002
NM_001943.5(DSG2):c.219A>G (p.Ile73Met) rs748445394 0.00002
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu) rs750010743 0.00002
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) rs775091459 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln) rs532305326 0.00002
NM_001943.5(DSG2):c.919C>G (p.Leu307Val) rs1052070604 0.00002
NM_001943.5(DSG2):c.977A>T (p.Asp326Val) rs769699241 0.00002
NM_001943.5(DSG2):c.1000G>A (p.Val334Met) rs761360851 0.00001
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met) rs1454000095 0.00001
NM_001943.5(DSG2):c.1045G>A (p.Asp349Asn) rs754281384 0.00001
NM_001943.5(DSG2):c.106A>G (p.Lys36Glu) rs1441795357 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met) rs375740419 0.00001
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) rs369214871 0.00001
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser) rs370547219 0.00001
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile) rs1598819592 0.00001
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val) rs368419383 0.00001
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr) rs1293179210 0.00001
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr) rs769741655 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1622C>G (p.Ala541Gly) rs764745535 0.00001
NM_001943.5(DSG2):c.176G>A (p.Arg59Gln) rs768794560 0.00001
NM_001943.5(DSG2):c.1784A>G (p.His595Arg) rs371326860 0.00001
NM_001943.5(DSG2):c.1921G>A (p.Ala641Thr) rs1445203397 0.00001
NM_001943.5(DSG2):c.2001+3C>G rs746471051 0.00001
NM_001943.5(DSG2):c.2068A>G (p.Met690Val) rs1453554024 0.00001
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu) rs997161591 0.00001
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) rs141388237 0.00001
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val) rs772240008 0.00001
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) rs794728090 0.00001
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro) rs1384172051 0.00001
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp) rs374177723 0.00001
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln) rs754057911 0.00001
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) rs760786694 0.00001
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp) rs759746836 0.00001
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) rs765238150 0.00001
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716 0.00001
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.46A>G (p.Ile16Val) rs376660601 0.00001
NM_001943.5(DSG2):c.523C>T (p.His175Tyr) rs375422019 0.00001
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320 0.00001
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile) rs767523704 0.00001
NM_001943.5(DSG2):c.828+5C>T rs373286117 0.00001
NM_001943.5(DSG2):c.872C>T (p.Thr291Met) rs774563205 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) rs751012696 0.00001
NM_001943.5(DSG2):c.902T>C (p.Ile301Thr) rs1370553229 0.00001
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr) rs773871942 0.00001
NM_001943.5(DSG2):c.1014+3_1014+4del
NM_001943.5(DSG2):c.1034T>A (p.Met345Lys) rs2144332528
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1064C>T (p.Ala355Val)
NM_001943.5(DSG2):c.1111A>C (p.Thr371Pro)
NM_001943.5(DSG2):c.1159C>G (p.His387Asp) rs886039173
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg) rs763242004
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr) rs938919152
NM_001943.5(DSG2):c.1316C>G (p.Ser439Cys) rs2073222283
NM_001943.5(DSG2):c.131T>C (p.Leu44Ser)
NM_001943.5(DSG2):c.1321G>T (p.Asp441Tyr)
NM_001943.5(DSG2):c.1355T>C (p.Leu452Pro)
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg) rs763810935
NM_001943.5(DSG2):c.1427A>T (p.Tyr476Phe)
NM_001943.5(DSG2):c.1429C>A (p.Pro477Thr)
NM_001943.5(DSG2):c.143A>G (p.Lys48Arg) rs1225118377
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser) rs886053714
NM_001943.5(DSG2):c.1451C>T (p.Thr484Ile) rs1003784921
NM_001943.5(DSG2):c.1483A>T (p.Asn495Tyr)
NM_001943.5(DSG2):c.148G>T (p.Ala50Ser) rs1267795586
NM_001943.5(DSG2):c.1496T>C (p.Leu499Pro)
NM_001943.5(DSG2):c.1499T>G (p.Ile500Arg) rs769741655
NM_001943.5(DSG2):c.1504C>T (p.Pro502Ser) rs774495857
NM_001943.5(DSG2):c.1532A>G (p.Glu511Gly) rs1416039056
NM_001943.5(DSG2):c.1533G>C (p.Glu511Asp)
NM_001943.5(DSG2):c.1549G>T (p.Ala517Ser) rs1299327345
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1670A>G (p.Gln557Arg)
NM_001943.5(DSG2):c.1676G>A (p.Ser559Asn)
NM_001943.5(DSG2):c.167T>G (p.Val56Gly)
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
NM_001943.5(DSG2):c.1707G>C (p.Gln569His) rs370097438
NM_001943.5(DSG2):c.1729G>C (p.Gly577Arg)
NM_001943.5(DSG2):c.172C>G (p.Leu58Val) rs780300040
NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)
NM_001943.5(DSG2):c.1817C>A (p.Ser606Tyr)
NM_001943.5(DSG2):c.1880T>C (p.Leu627Ser)
NM_001943.5(DSG2):c.1894C>A (p.Leu632Met) rs187508748
NM_001943.5(DSG2):c.1900A>C (p.Met634Leu)
NM_001943.5(DSG2):c.190C>G (p.Leu64Val)
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) rs794728088
NM_001943.5(DSG2):c.1964A>T (p.His655Leu)
NM_001943.5(DSG2):c.2008C>T (p.Pro670Ser)
NM_001943.5(DSG2):c.2026G>C (p.Asp676His)
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
NM_001943.5(DSG2):c.2087T>G (p.Met696Arg)
NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr)
NM_001943.5(DSG2):c.2183G>A (p.Arg728Lys)
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) rs780650226
NM_001943.5(DSG2):c.2210G>A (p.Gly737Asp)
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser) rs763994831
NM_001943.5(DSG2):c.2254G>C (p.Gly752Arg)
NM_001943.5(DSG2):c.2261C>T (p.Ser754Phe)
NM_001943.5(DSG2):c.2271G>A (p.Met757Ile) rs2073277708
NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)
NM_001943.5(DSG2):c.2417C>T (p.Ser806Leu)
NM_001943.5(DSG2):c.2438G>T (p.Cys813Phe)
NM_001943.5(DSG2):c.2441G>T (p.Cys814Phe)
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr) rs1284559802
NM_001943.5(DSG2):c.2470C>A (p.Arg824Ser)
NM_001943.5(DSG2):c.2479G>C (p.Asp827His)
NM_001943.5(DSG2):c.2504C>T (p.Thr835Ile)
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)
NM_001943.5(DSG2):c.2509G>A (p.Ala837Thr) rs2073302750
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) rs886039011
NM_001943.5(DSG2):c.259T>G (p.Tyr87Asp)
NM_001943.5(DSG2):c.2616G>T (p.Glu872Asp)
NM_001943.5(DSG2):c.2625G>A (p.Met875Ile)
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2696C>T (p.Ala899Val) rs1446243136
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp) rs1396387126
NM_001943.5(DSG2):c.271G>A (p.Gly91Arg)
NM_001943.5(DSG2):c.2729G>A (p.Arg910Lys)
NM_001943.5(DSG2):c.2758G>T (p.Val920Leu)
NM_001943.5(DSG2):c.2759T>C (p.Val920Ala)
NM_001943.5(DSG2):c.2792G>A (p.Arg931Lys) rs886039205
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val) rs1469730786
NM_001943.5(DSG2):c.2873C>T (p.Pro958Leu)
NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)
NM_001943.5(DSG2):c.289C>T (p.Pro97Ser)
NM_001943.5(DSG2):c.2933C>T (p.Pro978Leu)
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys) rs781744343
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp) rs746359987
NM_001943.5(DSG2):c.2951C>G (p.Thr984Arg)
NM_001943.5(DSG2):c.2954T>C (p.Val985Ala)
NM_001943.5(DSG2):c.2969G>A (p.Arg990Lys)
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val) rs933743259
NM_001943.5(DSG2):c.2975T>C (p.Ile992Thr)
NM_001943.5(DSG2):c.2978A>G (p.Gln993Arg)
NM_001943.5(DSG2):c.303A>G (p.Ile101Met) rs755433039
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys) rs1057520867
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup) rs1319078257
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3146G>C (p.Arg1049Thr)
NM_001943.5(DSG2):c.3230C>T (p.Ser1077Phe) rs962653351
NM_001943.5(DSG2):c.3239G>T (p.Gly1080Val)
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg) rs2073313909
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) rs778884735
NM_001943.5(DSG2):c.3329A>G (p.His1110Arg)
NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)
NM_001943.5(DSG2):c.370T>A (p.Phe124Ile)
NM_001943.5(DSG2):c.383C>T (p.Thr128Ile) rs764530260
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys) rs2073125035
NM_001943.5(DSG2):c.391G>T (p.Ala131Ser) rs373542380
NM_001943.5(DSG2):c.444G>C (p.Lys148Asn)
NM_001943.5(DSG2):c.484G>A (p.Asp162Asn)
NM_001943.5(DSG2):c.486T>A (p.Asp162Glu) rs756239722
NM_001943.5(DSG2):c.494T>C (p.Val165Ala)
NM_001943.5(DSG2):c.530T>C (p.Leu177Pro)
NM_001943.5(DSG2):c.616G>A (p.Ala206Thr)
NM_001943.5(DSG2):c.628G>A (p.Val210Met)
NM_001943.5(DSG2):c.691-5T>A
NM_001943.5(DSG2):c.722C>T (p.Ala241Val)
NM_001943.5(DSG2):c.818A>C (p.Glu273Ala)
NM_001943.5(DSG2):c.820A>T (p.Asn274Tyr)
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.832G>A (p.Glu278Lys)
NM_001943.5(DSG2):c.863T>G (p.Val288Gly)
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.888C>G (p.Phe296Leu)
NM_001943.5(DSG2):c.898G>A (p.Glu300Lys)
NM_001943.5(DSG2):c.901A>T (p.Ile301Leu)
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp) rs1338174918
NM_001943.5(DSG2):c.967A>G (p.Ile323Val) rs886039096
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205

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