ClinVar Miner

List of variants in gene NLRP1 reported as pathogenic for corneal disorder

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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