ClinVar Miner

List of variants in gene DSG2 reported as likely pathogenic

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Total variants: 61
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HGVS dbSNP
NC_000018.10:g.(?_31519793)_(31519947_?)del
NM_001943.4(DSG2):c.1015delG (p.Glu339Lysfs) rs794728094
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer) rs745457570
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.1423+1G>T
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) rs193298428
NM_001943.5(DSG2):c.152G>C (p.Trp51Ser) rs397516702
NM_001943.5(DSG2):c.1652-1G>A rs1382430464
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.1938del (p.Ile647fs)
NM_001943.5(DSG2):c.216+1G>T
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
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.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2595dup (p.Ala866fs) rs1598826658
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.2979G>T (p.Gln993His)
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs)
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.379-1G>A
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619
NM_001943.5(DSG2):c.45+1G>A rs1568098570
NM_001943.5(DSG2):c.45+1G>C
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.618_625del (p.Tyr207fs) rs1598811348
NM_001943.5(DSG2):c.667del (p.Thr223fs) rs1555671335
NM_001943.5(DSG2):c.690+1G>A rs750176752
NM_001943.5(DSG2):c.691-1G>A rs1555671441
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu) rs869025388
NM_001943.5(DSG2):c.803_810dup (p.Val271fs)
NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs) rs794728100
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712

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