ClinVar Miner

List of variants in gene DSG2 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
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.473T>G (p.Val158Gly) rs191143292 0.00550
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.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.*211A>G rs555912274 0.00039
NM_001943.5(DSG2):c.121C>A (p.His41Asn) rs201499704 0.00039
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 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.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn) rs140193292 0.00012
NM_001943.5(DSG2):c.81+17A>G rs547399759 0.00012
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) rs767979763 0.00011
NM_001943.5(DSG2):c.523+20T>C rs775127367 0.00010
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) rs544981484 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.2471G>A (p.Arg824His) rs376858770 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
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.2702A>G (p.Lys901Arg) rs886039190 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 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.216+3A>C rs774208829 0.00003
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr) rs371918777 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys) rs766843045 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 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.1013A>T (p.Lys338Met) rs1454000095 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.128A>G (p.His43Arg) rs370922106 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile) rs1598819592 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1652-8C>T rs770497608 0.00001
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser) rs756896076 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu) rs769649528 0.00001
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 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.2589G>A (p.Met863Ile) rs375955157 0.00001
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) rs760786694 0.00001
NM_001943.5(DSG2):c.2742T>C (p.Ser914=) rs529198523 0.00001
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) rs775670183 0.00001
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) rs1408093009 0.00001
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn) rs919875624 0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432 0.00001
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) rs1275376903 0.00001
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys) rs566251077 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 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.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.5(DSG2):c.1423+1G>T rs1257877047
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) rs776525113
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1811A>G (p.His604Arg) rs1359949181
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) rs886039011
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp) rs771675609
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp) rs746359987
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met) rs776686758
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr) rs1478351535
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser) rs2073152820
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205

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