ClinVar Miner

List of variants in gene NLRP12 reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter) rs745881796 0.00002
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_144687.4(NLRP12):c.1382dup (p.Leu461fs)
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)
NM_144687.4(NLRP12):c.2072+1G>C rs766603266
NM_144687.4(NLRP12):c.46dup (p.Tyr16fs) rs1599879570
NM_144687.4(NLRP12):c.770del (p.Gln257fs) rs2122677940
NM_144687.4(NLRP12):c.957del (p.Thr320fs)

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