List of variants in gene NLRP1 reported as pathogenic for diffuse palmoplantar keratoderma

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001033053.2(NLRP1):c.2358-?_2528+?del
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr)	rs1057519492
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)	rs1057519493
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)	rs397514692

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