ClinVar Miner

Variants in gene NLRP12 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln) rs201596732 0.00012
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr) rs369502542 0.00010
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753 0.00009
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly) rs773831845 0.00001
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp) rs758607519 0.00001
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg) rs554602951
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro) rs777108086

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