List of variants in gene NLRP1 studied for corneal disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)	rs11651270	0.47552
NM_033004.4(NLRP1):c.464T>A (p.Leu155His)	rs12150220	0.33261
NM_033004.4(NLRP1):c.114G>C (p.Ser38=)	rs884367	0.15491
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg)	rs72827640	0.00324
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln)	rs140628502	0.00122
NM_033004.4(NLRP1):c.272-7C>G	rs202080927	0.00036
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.3228C>T (p.Asp1076=)	rs139890811	0.00004
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met)	rs761505501	0.00004
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.2043G>T (p.Glu681Asp)	rs146030920
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)	rs397514692
NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys)	rs1597390369
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter)	rs758319723

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