ClinVar Miner

List of variants in gene DSG2 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 118
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HGVS dbSNP
NM_001943.5(DSG2):c.*2C>T rs183494886
NM_001943.5(DSG2):c.-11G>A rs727504450
NM_001943.5(DSG2):c.-15G>A rs727502982
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) rs727505208
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp) rs727504748
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=) rs202095254
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.5(DSG2):c.1317T>C (p.Ser439=) rs727505064
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) rs727504533
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu) rs397516702
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)
NM_001943.5(DSG2):c.1652-12C>T rs140850369
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370
NM_001943.5(DSG2):c.1724A>G (p.Asn575Ser) rs727502988
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr) rs368257724
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397
NM_001943.5(DSG2):c.2085G>A (p.Thr695=) rs554396523
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770
NM_001943.5(DSG2):c.2100C>T (p.Ser700=) rs397516704
NM_001943.5(DSG2):c.2127T>C (p.His709=) rs876657457
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.5(DSG2):c.216+14_216+15del rs876657458
NM_001943.5(DSG2):c.217-5G>T rs80073511
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr) rs397516705
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr) rs876657792
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly) rs777642924
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe) rs371498622
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) rs547741894
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040
NM_001943.5(DSG2):c.291A>C (p.Pro97=) rs727502983
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=) rs727504601
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) rs2848673
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.5(DSG2):c.474G>A (p.Val158=) rs397516708
NM_001943.5(DSG2):c.523+2T>C rs397516709
NM_001943.5(DSG2):c.524-9T>A rs11876289
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442
NM_001943.5(DSG2):c.618T>A (p.Ala206=) rs397516710
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703
NM_001943.5(DSG2):c.782G>A (p.Arg261His) rs727502984
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter) rs397516712
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205

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