ClinVar Miner

List of variants in gene DSG2 reported as uncertain significance by Blueprint Genetics

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433 0.00032
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001943.5(DSG2):c.1014+1G>A rs587782939 0.00001
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) rs141388237 0.00001
NM_001943.5(DSG2):c.2335-7A>G rs528851283 0.00001
NM_001943.5(DSG2):c.2664C>A (p.Phe888Leu) rs773831600 0.00001
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu) rs587782938 0.00001
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu) rs794728082 0.00001
NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser) rs730880078
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) rs780650226
NM_001943.5(DSG2):c.3265G>A (p.Gly1089Ser) rs869025389

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