ClinVar Miner

List of variants in gene SERPINB7 reported as pathogenic for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
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_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_003784.4(SERPINB7):c.522dup (p.Val175fs) rs672601344 0.00009
NM_003784.4(SERPINB7):c.157C>T (p.Gln53Ter) rs199555021 0.00005
NM_003784.4(SERPINB7):c.455-1G>A rs577442939 0.00003
NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT (p.Gln73fs) rs797044479
NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs) rs534014297

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