ClinVar Miner

List of variants in gene NLRP1 reported as uncertain significance 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_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) rs201743343 0.00009
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) rs201750573 0.00009
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) rs761505501 0.00004
NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys) rs1597390369
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter) rs758319723

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