ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs) rs794728098
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.601_605del (p.Val201fs) rs794728092
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) rs794728083
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007

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