ClinVar Miner

List of variants reported as uncertain significance for autoinflammation with arthritis and dyskeratosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_033004.4(NLRP1):c.3788T>C (p.Ile1263Thr) rs140309319 0.00044
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.2176C>T (p.Arg726Trp) rs776245016 0.00001
NM_033004.4(NLRP1):c.1580G>A (p.Cys527Tyr) rs1914443247
NM_033004.4(NLRP1):c.2170G>A (p.Glu724Lys) rs1347045059
NM_033004.4(NLRP1):c.3568G>A (p.Glu1190Lys)
NM_033004.4(NLRP1):c.790del (p.Cys264fs) rs1597460588

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