ClinVar Miner

List of variants in gene DSG2 reported as benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233 0.50779
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.47991
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.23032
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02115
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01156
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01020
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00608
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00508
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00272
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00270
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00199
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00107
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00066
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00055
NM_001943.5(DSG2):c.523+24del rs77324780
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234

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