ClinVar Miner

List of variants in gene DSG2 reported as likely pathogenic by Invitae

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Total variants: 12
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HGVS dbSNP
NC_000018.10:g.(?_31519793)_(31519947_?)del
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)
NM_001943.5(DSG2):c.1423+1G>T
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) rs193298428
NM_001943.5(DSG2):c.216+1G>T
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.379-1G>A
NM_001943.5(DSG2):c.45+1G>A rs1568098570
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.690+1G>A rs750176752
NM_001943.5(DSG2):c.691-1G>A rs1555671441

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