ClinVar Miner

List of variants in gene DSG2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 41
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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 0.48308
NM_001943.5(DSG2):c.1014+27G>A rs62095194 0.22724
NM_001943.5(DSG2):c.828+16C>A rs3737378 0.22345
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.22185
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_001943.5(DSG2):c.523+24T>A rs55657337 0.15444
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02255
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240 0.00196
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407 0.00038
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433 0.00032
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00018
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314 0.00006
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_001943.5(DSG2):c.2421G>T (p.Leu807=) rs374775982 0.00003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00003
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp) rs1191142951 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657 0.00001
NM_001943.5(DSG2):c.*9C>T
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
NM_001943.5(DSG2):c.2254G>T (p.Gly752Trp)
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.3093dup (p.Thr1032fs)
NM_001943.5(DSG2):c.3144_3145del (p.Arg1049fs)
NM_001943.5(DSG2):c.601G>A (p.Val201Ile) rs184100321
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234

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