ClinVar Miner

List of variants in gene DSG2 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 46
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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.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_001943.5(DSG2):c.82-1G>A rs746353565 0.00001
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1084_1086delinsT (p.Lys362fs) rs2144332631
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1283_1284del (p.Tyr428fs) rs2144339598
NM_001943.5(DSG2):c.1311G>A (p.Trp437Ter)
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1336G>T (p.Glu446Ter)
NM_001943.5(DSG2):c.1422dup (p.Asp475fs) rs2144339967
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.152G>C (p.Trp51Ser) rs397516702
NM_001943.5(DSG2):c.1651+1G>A
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1879+1G>A
NM_001943.5(DSG2):c.1971G>A (p.Trp657Ter)
NM_001943.5(DSG2):c.2001_2001+5del rs779360113
NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter) rs794728097
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.2358del (p.Asp787fs) rs1064793103
NM_001943.5(DSG2):c.253dup (p.Ile85fs)
NM_001943.5(DSG2):c.2595dup (p.Ala866fs) rs1598826658
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs) rs1567934720
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs) rs2073310848
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.375dup (p.Leu126fs)
NM_001943.5(DSG2):c.379-2A>C rs2144316016
NM_001943.5(DSG2):c.390C>A (p.Tyr130Ter) rs369489095
NM_001943.5(DSG2):c.405del (p.Gly136fs)
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.618_625del (p.Tyr207fs) rs1598811348
NM_001943.5(DSG2):c.667del (p.Thr223fs) rs1555671335
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001943.5(DSG2):c.81+1G>T rs1237620145
NM_001943.5(DSG2):c.829-2A>T rs2144322548
NM_001943.5(DSG2):c.852_855del (p.Asn284fs) rs1165139589
NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs) rs794728100
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201

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