ClinVar Miner

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

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Total variants: 51
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HGVS dbSNP
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.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.1204G>A (p.Asp402Asn) rs397516701
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) rs727504533
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.1592T>G (p.Phe531Cys) rs200484060
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370
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.1912G>A (p.Gly638Arg) rs201564919
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397
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.2212G>A (p.Ala738Thr) rs397516705
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.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.2648C>T (p.Ser883Phe) rs371498622
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile) rs547741894
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
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.308T>C (p.Val103Ala) rs876657790
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992
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.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) rs2848673
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.581C>T (p.Ser194Leu) rs374875442
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.806T>C (p.Ile269Thr) rs727502986
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205

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