ClinVar Miner

List of variants in gene DSG1 reported as uncertain significance for diffuse palmoplantar keratoderma

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001942.4(DSG1):c.3133G>A (p.Val1045Met) rs140838956 0.00038
NM_001942.4(DSG1):c.1690G>A (p.Val564Ile) rs146919961 0.00021
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg) rs2071779127
NM_001942.4(DSG1):c.2772_2775del (p.Glu924_Arg925insTer) rs2144128095
NM_001942.4(DSG1):c.3062A>G (p.His1021Arg)
NM_001942.4(DSG1):c.788A>G (p.Asn263Ser)

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