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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	rs191564916	0.00060
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.1376A>G (p.Tyr459Cys)	rs576404380	0.00003
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_001943.4(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.1826dup (p.Leu610fs)	rs1039633976
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.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.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.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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