ClinVar Miner

List of variants in gene NLRP3 reported as likely pathogenic for connective tissue disorder

Included ClinVar conditions (370):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001243133.2(NLRP3):c.1000A>G (p.Ile334Val) rs1662713003
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met) rs180177463
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr) rs180177503
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.2(NLRP3):c.1218G>A (p.Met406Ile) rs180177486
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1562T>A (p.Met521Lys) rs2103111391
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys) rs180177458
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
NM_001243133.2(NLRP3):c.1700A>C (p.Glu567Ala) rs2103112233
NM_001243133.2(NLRP3):c.1706G>A (p.Gly569Glu)
NM_001243133.2(NLRP3):c.1712T>G (p.Leu571Trp)
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) rs121908148
NM_001243133.2(NLRP3):c.1976T>G (p.Met659Arg) rs180177457
NM_001243133.2(NLRP3):c.2263G>C (p.Gly755Arg) rs180177469
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala) rs180177473
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr) rs180177449
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro) rs180177442
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro) rs180177431

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