ClinVar Miner

List of variants in gene DSC2 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.1591A>C (p.Arg531=) rs727502981 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980 0.00004
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1077+11G>T rs727504868 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_004949.5(DSC2):c.630+8_630+10delinsTT rs397517401
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.702G>A (p.Glu234=) rs397517402
NM_024422.6(DSC2):c.942+16A>T rs111347888

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