ClinVar Miner

List of variants in gene DSG2 reported by Eurofins NTD LLC (GA)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00003
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg) rs763242004
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234

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